Human Genetics Patterns of Inheritance for Human Traits
- Slides: 180
Human Genetics: Patterns of Inheritance for Human Traits Chapter 14
Bell Work 3 -29 -2016 1. Define sex-linked traits. 2. ___ are the female chromosomes and ___ are the male. 3. How are linkage and gene maps related? LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT / Study Island 2. Vocab & ? ? 3. Discussion of Sex – Linked Traits 4. Video 5. Worksheet Practice
Vocabulary and ? ? ? 1. What is meant by gene linkage? 2. Define: multiple alleles, polygenic traits, sex linked traits, linkage group, an state and example of each 3. Who is Thomas Morgan? a. What did he study? b. Describe his experiment. 4. Why are fruit flies ideal for studying genetics? 5. Describe how gene location on a chromosome affects the appearance of the trait and the assortment. 6. How are linkage and gene maps related? 7. What structures assort independently? 8. What is the allele combination for a male? Female? 9. Explain the inheritance of sex chromosomes in mammals. 10. Research how the following are sex linked traits; hemophilia, muscular dystrophy, fragile-X syndrome, red-green color blindness
We will be discussing 5 Patterns of Inheritance for Human Traits 1. Single Allele Dominant 2. Single Allele Recessive 3. Sex Linked (X-Linked) 4. Multiple Alleles 5. Polygenic Traits
What are autosomal traits? • Karyotype – an individual's collection of chromosomes
Single Allele Genes Regular traits that are either determined by a dominant or recessive allele on an autosome 1. Autosomal Dominant examples: a. Huntington’s Disease (Chromosome 4, 22) b. Achondroplasia (dwarfisim) (Chromosome 21) c. Polydactyly (extra fingers and toes) (Chromosome 7) d. Down Syndrome (Chromosome 21) 2. Autosomal Recessive examples: a. Albinism (Chromosome 11) b. Cystic Fibrosis (Chromosome 7) c. Sickle Cell Anemia (Chromosome 11)
1. Dominant Allele Disorders Huntington’s Disease (HD) § Results in loss of muscle control and mental deterioration § No signs are shown until 30’s § Brain degeneration § Treatment: No cure, but drug treatments are available to help manage symptoms.
1. Dominant Allele Disorders Achondroplasia § Dwarfism § Person grows no taller than 4’ 4
1. Dominant Allele Disorders Polydactyly § The presence of more than the normal number of fingers or toes. § Can usually be corrected by surgery.
2. Recessive Allele Disorders Albinism § Lack of pigment in skin, hair, and eyes § Mutation in one of several genes which provide the instructions for producing one of several proteins in charge of making melanin.
2. Recessive Allele Disorders Cystic Fibrosis (CF) § Caused by recessive allele on chromosome 7 § Small genetic change (removes one Amino Acid) changes protein § Results in: Excess mucus in the lungs, liver and digestive tract, gets infection easily, and early death unless treated.
2. Recessive Allele Disorders Sickle Cell Disease § Red blood cells are bent and twisted § Get stuck in capillaries damage tissues § Results in weakness, damage to brain and heart
SEX-LINKED and SEX INFLUENCED TRAITS
What did you learn about Thomas Morgan’s research? ? ? ’s he wanted answers to… What were inherited factors? Where were they located? How were they passed from one generation to the next?
Chromosomal theory of inheritance Genes are located on chromosomes like beads on a string, and that some genes are linked *meaning they are on the same chromosome and always inherited together
Sex-linked Traits Example: Eye color in fruit flies Sex Chromosomes fruit fly eye color XX chromosome - female XY chromosome - male copyright cmassengale 17
Sex-linked Trait Problem • Example: Eye color in fruit flies • (red-eyed male) x (white-eyed female) X RY x X r • Remember: the Y chromosome in males does not carry an allele for the trait. • RR = red eyed Xr • Rr = red eyed • rr = white eyed XR • XY = male • XX = female 50% red eyed female 50% white eyed male Y 18
What is the difference between an Autosome and a Sex-chromosome? • Autosomes are the first 22 homologous pairs of human chromosomes that do not influence the sex of an individual. • Sex Chromosomes are the 23 rd pair of chromosomes that determine the sex of an individual.
SEX DETERMINATION XX = female Xy =
Who decides? X X X Mom can give X X Dad can give X or y X y Dads determine sex of babies. If dad gives X with mom’s X = girl If dad give y with mom’s X = boy
Bell Work 3 -30 -2016 EOC in 43 DAYS!!! 1. What is a karyotype? 2. Chromosomes ____ are all autosomes and ___ are sex chromosomes. 3. Who is Thomas Morgan and describe his research? LT 31 I can explain sex-linked patterns of inheritance.
Bell Work 3 -31 -2016 EOC in 42 DAYS!!! 1. Consider your knowledge of mitosis and meiosis. How do these processes relate to an organisms karyotype ? 2. Set up a Punnett cross to determine the offspring phenotype ratio for parents that are Xc. Y and XCXc in which normal eyesight (C) is dominant to color blindness (c). 3. How many autosomal chromosomes can you expect to find on a normal organisms karyotype? 4. Explain how you can examine a karyotype to determine if the organism is male or female. LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT 2. Review 3. Crazy Traits. Z
Making a BABY! When directed groups will get the Crazy Traits from the counter. 1. 2. You will make all predictions first using the guide sheet. Toss the red and black (X, Y) chips to determine the genotype and phenotype of the offspring. Chart 3. Toss the green and blue chips with the “T” to determine the traits of the parents. Chart as you do each one. 4. Complete a Punnett square using the parents traits to determine the genotype of offspring. 5. Roll the die to determine which square to use (only use #1 -4). Chart genotype 6. Using the “Key” on the back to determine the phenotype of the offspring. 7. Create your BABY. 8. Toss one penny at a time to determine if the parents are colorblind or normal. Chart 9. Complete a Punnett square choose the phenotype and genotype for the offspring. 10. Answer questions
Bell Work 3 -30 -2016 EOC in 43 DAYS!!! 1. What is a karyotype? 2. Chromosomes ____ are all autosomes and ___ are sex chromosomes. 3. Who is Thomas Morgan and describe his research? LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT 2. Amoeba WKST 3. (Groups) Internet http: //www. k-state. edu/biology/pob/genetics/xlinked. htm 4. Crazy Traits
Bell Work 4 -01 -2016 EOC in 41 DAYS!!! Draw a mind map demonstrating the relationship between homologous chromosomes, sex chromosomes, mitosis, meiosis, karyotype, gene map, genes, and DNA beginning with the word nucleus. Be prepared to share. LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT 2. EOC Study Guide 3. Crazy Traits
Who decides? X X X Mom can give X X Dad can give X or y X y Dads determine sex of babies. If dad gives X with mom’s X = girl If dad give y with mom’s X = boy
SEX CHROMOSOMES CAN CARRY OTHER GENES TOO SEX LINKED TRAITS = __________
SEX LINKED TRAITS show up in different % in males and females because they move with the sex chromosomes
Sex chromosomes can carry other genes Y-LINKED GENES: Genes carried on Y chromosome EX: Hairy pinna Y linked males. _____genes only show up in _______
Make a cross with a y-linked gene Hairy ears is a Y linked ________ dominant ________ trait H Use ______ for hairy ears. Use ______ for recessive normal ears. h H y On y chromosome so write it as ____
Make a cross with a y-linked gene X X y. H X X X H X y ALL GIRLS = ______ Normal ears ALL BOYS = Hairy ears ______
Sex chromosomes can carry other genes X-LINKED GENES: Genes carried on the X chromosome EX: _______ Hemophilia _______ Colorblindness Duchenne Muscular Dystrophy _____________
Make a cross with an X-linked gene Hemophilia is an X-linked ________ recessive ________ disease H Use ______ for normal dominant blood clotting gene. h Use ______ for recessive hemophilia gene. h X On X chromosome so write it as ____
Mother H H Without hemophilia = X X H h CARRIER Without hemophilia = X X h h With hemophilia = X X Father H Without hemophilia = X y h With hemophilia = X y
Make a cross with an X-linked gene Colorblindness is an X-linked ________ recessive ________ disease B Use ______ for normal dominant color gene b Use ______ for recessive colorblind gene. b X On X chromosome so write it as ____
Mother B B normal vision = X X B b CARRIER normal vision = X X b b colorblind = X X Father B normal vision = X y b colorblind = X y
SEX LINKED TRAITS show up in different % in males and females because they move with the sex chromosomes
ONLY Y linked genes ____ show up in males. more often X linked recessive genes appear _____ in males than females. CARRIERS Females can be _____ for X linked recessive traits. NEVER BE Males can _____ carriers for X linked recessive genes. The either have trait OR are normal.
Bell Work 4 -11 -2016 EOC in 30 DAYS!!! 1. Define passive and active cellular transport using the terms diffusion, osmosis, facilitated diffusion, and active transport and the concept of high to low concentration and low to high concentration. 2. What is the equation for photosynthesis, and where does it take place? 3. What is ATP and how does it release energy? 4. Describe 3 forms of evidence for evolution. 5. Describe sex-linked traits. LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT 2. Discussion 1. EOC 2. Sex-linked traits 3. Activity 4. Formative Tomorrow
Bell Work 4 -12 -2016 EOC in 29 DAYS!!! 1. What element do the 4 macromolecules have in common? 2. Compare prokaryote and eukaryotes using the words nuclear membrane, nuclear material, nucleus, multicellular, unicellular, one organelle, more organelles, plants, animals, fungi, protista, and bacteria. 3. Describe the 3 statements for cell theory. 4. Beginning with organelles and ending with organism, what are the levels of organization. 5. Make a cross with an sex-linked gene of parents when the mother is a carrier and the father is normal. LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda 1. BW / LT 2. Discuss assignment 3. Formative
X H H X X h X H y H X X H X y h X y Carrier Mom X Normal dad GIRLS 1/2 _______ = normal _______ = look normal 1/2 but are CARRIERS BOYS 1/2 _______ = normal _______ = hemophilia 1/2
Color blindness is sex linked y b X XB XB X B X b XB y XBXb XBy GIRLS = ________ 100% carriers 100% normal BOYS = ________ HOMOZYGOUS Normal Mom X colorblind dad
Bell Work 4 -13 -2016 EOC in 28 DAYS!!! 1. Compare endocytosis and exocytosis. 2. Draw a diagram demonstrating the effects of concentration on a cell: hypotonic, hypertonic and isotonic. 3. What is the cellular function of flagella, cilia, and pseudopodia? 4. Compare the shape and organelles of plant and animal cells. 5. What is a pedigree? LT 31 I can explain sex-linked patterns of inheritance.
What is the LT? Agenda • BW / LT / EOC Guide / Study Island • Formative • Pedigree Activity
What is the difference between an Autosome and a Sex-chromosome?
Autosomal Traits • Genes located on Autosomes control Autosomal traits and disorders. 2 Types of Traits: • Autosomal Dominant • Autosomal Recessive
Autosomal Dominant Traits • If dominant allele is present on the autosome, then the individual will express the trait. • A = dominant a = recessive • What would be the genotype of an individual with an autosomal dominant trait? – AA and Aa (Heterozygotes are affected) • What would be the genotype of an individual without the autosomal dominant trait? – aa
Autosomal Recessive Traits • If dominant allele is present on the autosome, then the individual will not express the trait. In order to express the trait, two recessive alleles must be present. • A = dominant a = recessive • What would be the genotype of an individual with an autosomal recessive trait? – aa • What would be the genotype of an individual without the autosomal recessive trait? – AA or Aa – called a Carrier because they carry the recessive allele and can pass it on to offspring, but they do not express the trait.
Sex-Linked Traits • Sex-linked traits are produced by genes only on the X chromosome. • They can be Dominant or Recessive. • A = dominant a = recessive • What would be the genotypes of a male and female that have a Sex-linked Dominant trait and do not express the trait? • Expresses Trait: Male - XA Y Female - XA XA or XA Xa • No Expression: Male - Xa Y Female - Xa Xa • What would be the genotypes of a male and female that have a Sex-linked Recessive trait and do not express the trait? • Expresses Trait: Male - Xa Y Female - Xa Xa • No Expression: Male - XA Y Female - XA XA or XA Xa (Carrier) • Most Sex-linked traits are Recessive!
Genetic Counselor Activity • Imagine that you are a Genetic Counselor assigned to family to discuss with them the possibility of their child inheriting a genetic disorder. • You are given the family history and whether or not the disorder is Autosomal Dominant or Autosomal Recessive. • Draw Punnett Squares to determine odds of children inheriting the disease and answer the questions on the worksheet.
How to Construct a Pedigree? • A Pedigree is a visual showing the pattern of inheritance for a trait. (Family tree) • • Symbols and Rules: Male = Female = Affected = Unaffected = Carrier = Link parents together with a line and then make a vertical line to connect to offspring.
Autosomal Dominant Pedigree • Draw a Pedigree showing a cross between Heterozygous parents that have 2 boys and 2 girls. (Show all possibilities) Genotypes of Affected and Unaffected: • AA and Aa = Affected aa = Unaffected Aa aa Aa AA
Autosomal Recessive Pedigree • Draw a Pedigree showing a cross between Heterozygous parents that have 2 boys and 2 girls. (Show all possibilities) Genotypes of Affected and Unaffected: • AA=Unaffected Aa=Carrier, Unaffected aa=Affected Aa aa Aa AA
Sex-Linked Recessive Pedigree • Draw a Pedigree showing a cross between a Red eyed Male fruit fly and a Carrier Female fruit fly which have 2 males and 2 females. (Show all possibilities) Red is dominant to white. • Genotypes of Parents: • Male = XR Y Female = XR Xr XR Y X RX r X r. Y X RX
Characteristics of Autosomal Dominant, Autosomal Recessive, and Sex-linked Recessive Traits • In groups, analyze your notes on each type of disorder and examine the pedigrees. • Come up with rules/characteristics for each type of Trait.
Autosomal Dominant Traits • Heterozygotes are affected • Affected children usually have affected parents. • Two affected parents can produce an unaffected child. (Aa x Aa) • Two unaffected parents will not produce affected children. (aa x aa) • Both males and females are affected with equal frequency. • Pedigrees show no Carriers.
Autosomal Recessive Traits • Heterozygotes are Carriers with a normal phenotype. • Most affected children have normal parents. (Aa x Aa) • Two affected parents will always produce an affected child. (aa x aa) • Two unaffected parents will not produce affected children unless both are Carriers. (AA x AA, AA x Aa) • Affected individuals with homozygous unaffected mates will have unaffected children. (aa x AA) • Close relatives who reproduce are more likely to have affected children. • Both males and females are affected with equal frequency. • Pedigrees show both male and female carriers.
Sex-Linked Recessive Traits • More males than females are affected. • An affected son can have parents who have the normal phenotype. (XAY x XAXa) • For a daughter to have the trait, her father must also have it. Her mother must have it or be a carrier. (Xa. Y, Xa. Xa, XAXa) • The trait often skips a generation from the grandfather to the grandson. • If a woman has the trait (Xa. Xa), all of her sons will be affected. • Pedigrees show only female carriers but no male carriers.
Examples of Autosomal Dominant Disorders • • Dwarfism Polydactyly and Syndactyly Hypertension Hereditary Edema • Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and pressure builds up, leading to damage of the optic nerve which can result in blindness. Huntington’s Disease – Nervous system degeneration resulting in certain and early death. Onset in middle age. Neurofibromatosis – Benign tumors in skin or deeper Familial Hypercholesterolemia – High blood cholesterol and propensity for heart disease Progeria – Drastic premature aging, rare, die by age 13. Symptoms include limited growth, alopecia, small face and jaw, wrinkled skin, atherosclerosis, and cardiovascular problems but mental development not affected. • •
Examples of Autosomal Recessive Disorders • • • Congenital Deafness Diabetes Mellitus Sickle Cell anemia Albinism Phenylketoneuria (PKU) – Inability to break down the amino acid phenylalanine. Requires elimination of this amino acid from the diet or results in serious mental retardation. • Galactosemia – enlarged liver, kidney failure, brain and eye damage because can’t digest milk sugar Cystic Fibrosis – affects mucus and sweat glands, thick mucus in lungs and digestive tract that interferes with gas exchange, lethal. Tay Sachs Disease – Nervous system destruction due to lack of enzyme needed to break down lipids necessary for normal brain function. Early onset and common in Ashkenazi Jews; results in blindness, seizures, paralysis, and early death. • •
Examples of Sex-Linked Recessive Disorders • Red/Green Colorblindness – Difficulty perceiving differences between colors (red or green, blue or yellow). • Hemophilia – Absence of one or more proteins necessary for normal blood clotting. • Deafness • Cataracts – opacity in the lens that can lead to blindness • Night blindness – (Nyctalopia) rods do not work so that can not see in the dark • Glaucoma – pressure in the eye that can lead to optic nerve damage and blindness • Duchenne Muscular Dystrophy – progressive weakness and degeneration of skeletal muscles that control movement due to absence of dystrophin (protein that maintains muscle integrity). Mainly in boys, onset 3 -5 yrs, by 12 years can’t walk, and later needs respirator.
Karyotype Activity • Objective: To learn how to construct a Karyotype and discover different genetic diseases from a karyotype. Procedure: 1. Work in groups of 2 -3. 2. Construct a karyotype from one smear 3. Use “Information on Chromosome Disorders” to identify the type of mutation. 4. Answer questions on the handout.
What are Chromosomal Mutations? • • Damage to chromosomes due to physical or chemical disturbances or errors during meiosis. Two Types of Chromosome Mutations: 1. Chromosome Structure 2. Chromosome Number
Problems with Chromosome Structure: 1. Deletion – during cell division, especially meiosis, a piece of the chromosome breaks off, may be an end piece or a middle piece (when two breaks in a chromosome occur). 2. Inversion – a segment of the chromosome is turned 180°, same gene but opposite position 3. Translocation – movement of a chromosome segment from one chromosome to a non-homologous chromosome 4. Duplication – a doubling of a chromosome segment because of attaching a broken piec form a homologous chromosome, or by unequal crossing over.
Problems with Chromosome Number 5. Monosomy – only one of a particular type of chromosome (2 n -1) 6. Trisomy – having three of a particular type of chromosome (2 n + 1) 7. Polyploidy – having more than two sets of chromosomes; triploids (3 n = 3 of each type of chromosome), tetraploids (4 n = 4 of each type of chromosome).
How do you think Chromosomal Mutations with differing number of chromosomes develops? • • • Monosomy and Trisomy due to Nondisjunction – members of homologous chromosomes do not move apart in Meiosis I or sister chromatids do not separate during Meiosis II leaves one cell with too few chromosomes and one cell with too many. Triploids develop from the fertilization of an abnormal diploid egg, produced from the nondisjunction of all chromosomes. Tetraploids develop from the failure of a 2 n zygote to divide after replicating its chromosomes, subsequent mitosis would produce 4 n embryo. Polyploidy is common in the plant kingdom, spontaneous origin of polyploid individuals plays important role in evolution of plants. In the animal kingdom, natural occurrence of polyploids is extremely rare. In general, polyploids are more nearly normal in appearance than having monosomy or trisomy, which is more disruptive to have one extra chromosome in a pair.
Human Pedigree Analysis
Highlight on the Following Chart Clues for Autosomal Inheritance Recessive Dominant Clues for Sex-linked Inheritance
Draw the Following Chart Clues for Autosomal Inheritance Recessive • individual expressing trait has 2 normal parents • two affected parents can not have an unaffected child Dominant • every affected person has at least one affected parent • each generation will have affected individuals Clues for Sex-linked Inheritance Recessive • no father-to-son transmission • predominantly males affected • trait may skip generations
INTERPRETING A PEDIGREE CHART • Determine whether the disorder is dominant or recessive. • If the disorder is dominant, one of the parents must have the disorder. • If the disorder is recessive, neither parent has to have the disorder because they can be heterozygous.
Rules of Inheritance Autosomal Recessive • Appears in both sexes with equal frequency • Trait tend to skip generations • Affected offspring are usually born to unaffected parents • When both parents are hetrozygout, approx. 1/4 of the progeny will be affected • Appears more frequently among the children of consanguine marriages
Rules of Inheritance Autosomal Dominant • Appears in both sexes with equal frequency • Both sexes transmit the trait to their offspring • Does not skip generations • Affected offspring must have an affected parent unless they posses a new mutation • When one parent is affected (het. ) and the other parent is unaffected, approx. 1/2 of the offspring will be affected • Unaffected parents do not transmit the trait
Rules of Inheritance X-Linked Dominant Both males and females are affected; often more females than males are affected • Does not skip generations. • Affected sons must have an affected mother; • affected daughters must have either an affected mother or an affected father • Affected fathers will pass the trait on to all their daughters • Affected mothers if heterozygous will pass the trait on to 1/2 of their sons and 1/2 of their daughters
Rules of Inheritance X-Linked Recessive • More males than females are affected • Affected sons are usually born to unaffected mothers, thus the trait skips generations • Approximately 1/2 of carrier mothers’ sons are affected • It is never passed from father to son • All daughters of affected fathers are carriers
Bell Work 1. 2. 3. 4. 5. 4 -14 -2016 EOC in 27 DAYS!!! Define homeostasis and state and example within the body. Define aerobic and anaerobic respiration. Decide how the 3 stages to cellular respiration fit into the two categories. In which organelle does aerobic respiration take place? How do pinocytosis, phagocytosis, and diffusion relate? What would be the genotype of an individual with an autosomal recessive trait? LT 31 I can construct a pedigree chart.
What is the LT? Agenda 1. BW / LT / Study Island 2. Pedigree Assignment 3. Additional practice 4. Kahoot
Bell Work 4 -19 -2016 EOC in 22 DAYS!!! (Study guide on your desk) 1. Describe where lactic acid fermentation and alcoholic fermentation take place. 2. Compare cellular respiration and photosynthesis with four facts each. 3. What is the function of enzymes? Draw an enzyme labeling the active site, enzyme and substrate. 4. Construct a pedigree demonstrating 4 generations. LT 31 I can construct a pedigree chart.
Bell Work 4 -19 -2016 EOC in 22 DAYS!!! (Study guide on your desk) 1. Compare asexual and sexual reproduction using the terms mitosis, meiosis, unicellular and multicellular organisms, haploid, diploid, genetically identical, genetic variation, 2 n, n, large number of offspring, low number of offspring, gametes, and 2 stages of cell division. 2. What happens during cell division? 3. What are the phases of cell cycle? Interphase? Mitosis? 4. What are the results of cytokinesis? LT 33 I can describe how common genetic disorders are inherited.
What is the LT? Agenda 1. BW / LT 2. Review Pedigree Assignment 3. Human Genome Project Cloze 4. Quizlet Live
Human Genome Project Science of the human genome • Imagine a world in which we will be able to treat diseases by altering our very genes‚ giving us new ones if ours are non-functional, changing bad genes for good ones. • For the first time in our existence, we are closer to understanding just what we are. We now have the tools to make the whole world better through science ‚
Genetic Disorders
What are monogenic and chromosomal disorders?
Polygenic traits: influenced by multiple genes. Monogene traits: mainly influenced by single genes.
Mutations • Gene mutations can be either inherited from a parent or acquired. • A hereditary mutation is a mistake that is present in the DNA of virtually all body cells. • • Hereditary mutations are also called germ line mutations because the gene change exists in the reproductive cells and can be passed from generation to generation, from parent to newborn. – Mutation is copied every time body cells divide
• Mutations occur all the time in every cell in the body. • Each cell, however, has the remarkable ability to recognize mistakes and fix them before it passes them along to its descendants. But a cell's DNA repair mechanisms can fail, or be overwhelmed, or become less efficient with age. Over time, mistakes can accumulate.
Down’s Syndrome • Caused by nondisjunction of the 21 st chromosome. • This means that the individual has a trisomy (3 – 2 lst chromosomes).
Down’s Syndrome or Trisomy 21
Symptoms of Down Syndrome • • • Upward slant to eyes. Small ears that fold over at the top. Small, flattened nose. Small mouth, making tongue appear large. Short neck. Small hands with short fingers.
Symptoms of Down Syndrome • • • Low muscle tone. Single deep crease across center of palm. Looseness of joints. Small skin folds at the inner corners of the eyes. Excessive space between first and second toe. In addition, down syndrome always involves some degree of mental retardation, from mild to severe. In most cases, the mental retardation is mild to moderate.
Turner’s • Turner syndrome is associated with underdeveloped ovaries, short stature, and is only in women. • Bull neck, and broad chest. Individuals are sterile, and lack expected secondary sexual characteristics. • Mental retardation typically not evident. • Chromosomal or monogenic
Turner’s Syndrome
Sickle Cell Anemia • An inherited, chronic disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises".
Sickle Cell • Sickle cell disease is most commonly found in African American populations. This disease was discovered over 80 years ago, but has not been given the attention it deserves.
Cystic Fibrosis (CF) • Monogenic • Cause: deletion of only 3 bases on chromosome 7 • Fluid in lungs, potential respiratory failure • Common among Caucasians… 1 in 20 are carriers – Therefore is it dominant or recessive?
Hemophilia, the royal disease • Hemophilia is the oldest • The severity of hemophilia known hereditary bleeding is related to the amount of disorder. the clotting factor in the blood. About 70% of • Caused by a recessive hemophilia patients have gene on the X less than one percent of chromosome. the normal amount and, • There about 20, 000 thus, have severe hemophilia patients in the hemophilia. United States. • One can bleed to death with small cuts.
X-linked Inheritance pedigree chart
Huntington’s Disease • Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control. The disease is also known as Huntington's chorea. Chorea means "dance-like movements" and refers to the uncontrolled motions often associated with the disease.
Huntington’s • Looking back at the pedigree chart is Huntington’s dominant or recessive? • Scientists have discovered that the abnormal protein produced by the Huntington's disease gene, which contains an elongated stretch of amino acids called glutamines, binds more tightly to HAP-1 than the normal protein does.
Diabetes • Disease in which the body does not produce or properly use insulin. – Insulin is a hormone that is needed to convert sugar, starches, and other food into energy needed for daily life. • Genetic mutation can lead to Type 1 diabetes, but no one sure if relative to a specific gene
Diabetes • Type 1 reveals itself in childhood, Type 2 can be made worse from excessive lifestyle • Warning signs – – – Extreme thirst Blurry vision from time to time Frequent urination Unusual fatigue or drowsiness Unexplained weight loss – Diabetes is the leading cause of kidney failure, blindness, and amputation in adults, and can also lead to heart disease.
Color Blindness • Cause: x-linked recessive • 1/10 males have, 1/100 females have. Why the difference? • Individuals are unable to distinguish shades of red-green. • Are you color blind?
Albinism • Patients are unable to produce skin or eye pigments, and thus are light-sensitive • Autosomal recessive – Therefore, is it monogenic or chromosomal?
Bell Work 4 -20 -2016 EOC in 21 DAYS!!! (Study guide on your desk) 1. What are the results of the first meiosis division? Second meiosis division? 2. Explain Mendel's laws of heredity: law of dominance, law of segregation and law of independent of assortment. 3. Describe 3 forms of evidence for evolution. • Study for the Formative
What is the LT? Agenda 1. BW / LT 2. Formative 3. Study Island 4. Quizlet
Achondroplasia (a. k. a. dwarfism) • Monogenic, autosomal – Carriers express genes, therefore, is it dominant or recessive? – There is also a disease called gigantism (Andre the Giant)
Phenylketonuria or PKU People with PKU cannot consume any product that contains aspartame. PKU is a metabolic disorder that results when the PKU gene is inherited from both parents (recessive or dominant? Monogenic or chromosomal? ) Caused by a deficiency of an enzyme which is necessary for proper metabolism of an amino acid called phenylalanine.
PKU • Phenylalanine is an essential amino acid and is found in nearly all foods which contain protein, dairy products, nuts, beans, tofu… etc. • A low protein diet must be followed. • Brain damage can result if the diet is not followed causing mental retardation…and mousy body odor (phenylacetic acid is in sweat).
PKU
Phenylalanine. Free diet •
ALS (Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease)
• the disease strikes people between the ages of 40 and 70, and as many as 30, 000 Americans have the disease at any given time • This monogenic mutation is believed to make a defective protein that is toxic to motor nerve cells. • A common first symptom is a painless weakness in a hand, foot, arm or leg, other early symptoms include speech swallowing or walking difficulty
Adenoleukodystrophy • ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in the 1993 film 'Lorenzo's oil'. In this disease the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and the adrenal gland degenerates, leading to progressive neurological disability and death.
Lorenzo’s Oil • Their invention, Lorenzo's Oil, has been adopted as therapy of choice for ALD by major neurological institutes the world over.
Lorenzo Odone • The oil came too late to stop his son from developing the symptoms must be hard to bear. Lorenzo lost most of his bodily functions and has been bedridden for 18 years.
The very tragic disease… hairy ears Y-linked trait, which are rare • symptoms…hairy ears • Only 1 cure known….
For each of the pedigrees below, identify the mode of inheritance and provide at least 2 reasons for your choice. • Autosomal recessive • Parents and grandparents have normal phenotype • Both males and females affected
Autosomal Recessive • Parents, grand parents, and great-grandparents have normal phenotype • Inbred line promotes expression of recessive trait
Sex-linked Recessive • Males only • Trait skips generations
Autosomal Dominant • Each generation has the disease • Each individual has an affected parent
Autosomal Recessive a) Aa b) Aa c) Aa d) Aa or AA • This is a pedigree for an inherited lung disease. Provide the genotypes of each of the individuals marked with lower case letters.
Autsomal Dominant a) Aa b) Aa c) Aa d) Aa e) Aa or AA • This is a pedigree for an inherited brain disease. Provide the genotypes of each of the individuals marked with lower case letters.
Use the pedigree for Trait A to determine the genetic basis of this trait. • Does a dominant or recessive allele produce this trait? Explain
Is it autosomal or sex-linked? Explain. • Which progeny assures that the trait is autosomal?
What are the genotypes of all of the individuals in the pedigree?
SEX INFLUENCED TRAITS not carried Genes ______ on sex chromosomes BUT affected by ______ of individual with sex hormones gene
Male Pattern Baldness Autosomal dominant gene
YOUR SEX CHANGES THE EXPRESSION OF THE GENE B is dominant for baldness b is recessive for not bald If you are MALE: BB = BALD B = BALD NOT bald b = If you are FEMALE: BB= BALD NOT bald Bb= NOT bald bb=
Will they be bald? Bald = B XB XB XBXB Y XB y Autosomal Dominant gene Bald dad X pure non bald mom Girls: 100% NOT BALD Boys: 100% BALD
Will they be bald? Bald = B Xb XB Xb Y XBXb XB y Xb. Xb Xby Autosomal Dominant gene NOT BALD dad Xb NOT BALD mom XBXb (who had a bald dad) Girls: 100% NOT BALD Boys: 50% BALD 50% NOT BALD
How are genes passed on over generations?
PEDIGREE CHART Males = Females = Has trait = Carrier =
SEX-LINKED and SEX INFLUENCED TRAITS
SEX DETERMINATION XX = ______ Xy = _____
Who decides? X Mom can give X X Dad can give X or y y Dads determine sex of babies. If dad gives X with mom’s X = girl If dad give y with mom’s X = boy X
SEX CHROMOSOMES CAN CARRY OTHER GENES TOO = __________
SEX LINKED TRAITS show up in different % in males and females because they move with the sex chromosomes
Sex chromosomes can carry other genes Y-LINKED GENES: Genes carried on Y chromosome EX: Hairy pinna _____genes only show up in _______
Make a cross with a y-linked gene Hairy ears is a ________________ trait Use ______ for hairy ears. Use ______ for recessive normal ears. On y chromosome so write it as ____
Make a cross with a y-linked gene X X ALL GIRLS = ______ X y. H ALL BOYS = ______
Sex chromosomes can carry other genes X-LINKED GENES: Genes carried on the X chromosome EX: _____________
Make a cross with an X-linked gene Hemophilia is an ________________ disease Use ______ for normal dominant blood clotting gene. Use ______ for recessive hemophilia gene. On X chromosome so write it as ____
Mother Without hemophilia = X X With hemophilia = X X Father Without hemophilia = X y With hemophilia = X y
Make a cross with an X-linked gene X X H X h H y Carrier Mom X Normal dad GIRLS _______ = normal _______ = look normal but are CARRIERS BOYS _______ = normal _______ = hemophilia
Make a cross with an X-linked gene Colorblindness is an ________________ disease Use ______ for normal dominant color gene Use ______ for recessive colorblind gene. On X chromosome so write it as ____
Mother normal vision = X X colorblind = X X Father normal vision = X y colorblind = X y
Color blindness is sex linked b X XB y XB GIRLS = ________ BOYS = ________ HOMOZYGOUS Normal Mom X colorblind dad
SEX LINKED TRAITS show up in different % in males and females because they move with the sex chromosomes
Y linked genes ____ show up in males. X linked recessive genes appear _____ in males than females. Females can be _____ for X linked recessive traits. Males can _____ carriers for X linked recessive genes. The either have trait OR are normal.
SEX INFLUENCED TRAITS not carried Genes ______ on sex chromosomes BUT affected by ______ of individual with sex hormones gene
Male Pattern Baldness Autosomal dominant gene
YOUR SEX CHANGES THE EXPRESSION OF THE GENE B is dominant for baldness B’ is recessive for not bald If you are MALE: BB = BB’ = B’B’ = If you are FEMALE: BB= BB’= B’B’=
Will they be bald? Bald = B BX B’X By Autosomal Dominant gene Bald dad X pure non bald mom
Will they be bald? Bald = B B’X BX B’X B’y Autosomal Dominant gene NOT BALD dad X NOT BALD mom (who had a bald dad)
How are genes passed on over generations?
PEDIGREE CHART Males = Females = Has trait = Carrier =
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