Diseases and karyotypes Definitions Autosomes any chromosome that
- Slides: 57
Diseases and karyotypes • Definitions • Autosomes- any chromosome that is not a sex chromosome. Not the “X” or “Y” • Sex-linked- genes located on the sex chromosome. Usually on the “X” • Nondisjunction- A chromosome mishap in meiosis
Abnormal numbers of autosomes • Metaphase chromosomes are photographed; • the chromosome pictures are then enlarged and • arranged in pairs by a computer according to length and location of the centromere.
Abnormal numbers of autosomes • This chart of chromosome pairs is called a karyotype, and it is valuable in identifying unusual chromosome numbers in cells.
• A Karyotype is a photograph of the chromosomes of a single cell.
Another view
Normal Female
Normal Male
Colchicine added to cells Cells broken open Picture of chromosomes taken Microscope zooms in Chromosomes cut up and arranged
Chromosomal Disorders Individuals are missing a chromosome or have an extra chromosome
Down syndrome: Trisomy 21 • Down syndrome is the only autosomal trisomy in which affected individuals survive to adulthood. • It occurs in about one in 700 live births.
Down syndrome: Trisomy 21 • Down syndrome is a group of symptoms that results from trisomy of chromosome 21. • Individuals who have Down syndrome have at least some degree of mental retardation. • The incidence of Down syndrome births is higher in older mothers, especially those over 40.
Chromosome 21
Abnormal numbers of sex chromosomes • Many abnormalities in the number of sex chromosomes are known to exist. • An X chromosome may be missing (designated as XO) or there may be an extra one (XXX or XXY). There may also be an extra Y chromosome (XYY).
Klinefelter’s Syndrome
XXY • Poor beard growth • Tend to grow fewer chest hairs • Breast development • Wide hips • Long legs • Narrow shoulders
Karyotype of a male with Klinefelter’s syndrome
• Short (<59”) XO • Webbed neck • Sterile • Low hairline
Karyotype of a female with Turner’s syndrome
Autosomal Genetic Disorders • These are a result of genes on the 22 pairs of chromosomes that are not the sex chromosomes (not X and Y)
Sickle Cell Anemia • Autosomal Recessive • Affects the blood • Symptoms: impaired blood circulation, organ damage • Defect: Abnormal hemoglobin molecules – RBC’s • 1/500 African Americans -If heterozygous will not get malaria
Sickle-cell disease • Abnormally shaped blood cells, slow blood flow, block small vessels, and result in tissue damage and pain. Normal red blood cell Sickle cell
Cystic Fibrosis • Recessive allele • Affects the lungs and digestive tract • Characterized by thick mucus in lungs and digestive tract • Food is not digested properly • Breathing is difficult - frequent lung infections
• . Most common lethal genetic disorder in white Americans. • Approximately one in 28 white Americans carries the recessive allele, and one in 2500 children born to white Americans inherits the disorder.
Cystic Fibrosis On chromosome 7 there is a mutation in a gene that causes a thick mucus to develop This is a frame shift mutation
• Autosomal dominant—carriers GET the disease • Affects the central nervous system • Causes nerve death in the brain. Starts with spasms and eventually leads to a vegetable like state and death. Onset between 30 and 50.
Huntington’s Disease Huntington disease affects an estimated 3 to 7 per 100, 000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. Defect on Chromosomes number 4
Typical Pedigree of Huntington’s Disease I 1 2 II 2 1 4 3 5 III 1 2 3 4 5
Phenylketonuria (PKU) • Autosomal recessive • Affects: brain • Symptoms: Failure of brain to develop in infancy; if untreated causes death. • Defect: Caused by absence of enzyme that converts phenylalanine to tyrosine (amino acids) • 1/18, 000 urine test, treated by diet until puberty.
Phenylketonuria (PKU) • Most common in people of Norwegian and Swedish descent.
Symptoms of PKU • New born appears normal. • Once baby starts drinking milk, which is high in phenylalanine, damage occurs
Symptoms • Build up in phenylalanine causes severe central nervous system damage resulting in mental retardation.
Treatment of PKU • All newborns are tested for PKU. • Changes in diet can prevent damage. Given a diet low in phenylalanine until the brain is fully developed.
Phenylketonuria Phenylketonurics: Contains Phenylalanine
Tay-Sachs disease • Tay-Sachs (tay saks) disease is a recessive disorder of the central nervous system. • In this disorder, a recessive allele results in the absence of an enzyme that normally breaks down a lipid produced and stored in tissues of the central nervous system. • Because this lipid fails to break down properly, it accumulates in the cells.
Symptoms of Tay-Sachs Disease • Blindness • Progressive loss of movement • Mental deterioration • Death by age 5.
I 1 2 Typical Pedigree for Tay-Sachs II 1 2 3 4 1 2 III 3 IV 1
Sex-linked traits • These are genes that are found on the X chromosome. They are generally more common in males than in females. • Females need to have it on both their X chromosomes ( get from mom and dad) • Since males only have 1 X chromosome, they only need to have received the allele from their mother for the trait to show.
Sex-linked trait
Hemophilia • X-linked recessive • Defect: defective form of blood-clotting agent. • Symptoms: failure of blood to clot • About one male in every 10 000 has hemophilia, but only about one in 100 million females inherits the same disorder.
Hemophilia: An X-linked disorder • Males inherit the allele for hemophilia on the X chromosome from their carrier mothers. One recessive allele for hemophilia will cause the disorder in males. • Females would need two recessive alleles to inherit hemophilia.
• Some genetic disorders are both genetic and environmental. People inherit the tendency to a trait, but how and when it is expressed depends on environmental factors such as diet, exercise, exposure to chemicals, etc.
Diabetes Asthma Cardiovascular Disease
- Autosomes in karyotypes
- Two copies of each autosomal gene affect
- Autosomes and sex chromosomes
- How to read chromosome
- The karyotypel has a turner syndrome
- Pedigrees and karyotypes
- Whats a karyotype
- Autosomes vs sex chromosomes
- Autosomes vs sex chromosomes
- Karotype
- Autosome
- Extra y chromosome
- Autosomes
- How many autosomes are there in a human sperm? *
- Different types of karyotypes
- Human karyotype
- Using karyotypes to diagnose genetic disorders
- Sickle cell karyotype
- Pku karyotype
- Pedigree flow chart
- Reading karyotypes
- Phân độ lown
- Block nhĩ thất độ 2 type 1
- Thơ thất ngôn tứ tuyệt đường luật
- Thơ thất ngôn tứ tuyệt đường luật
- Walmart thất bại ở nhật
- Tìm vết của đường thẳng
- Hãy nói thật ít để làm được nhiều
- Tôn thất thuyết là ai
- Gây tê cơ vuông thắt lưng
- Sau thất bại ở hồ điển triệt
- There isn't any chicken
- Any to any connectivity
- Seknder
- Lifestyle modern
- Is athlete's foot communicable or noncommunicable
- Section 19-3 diseases caused by bacteria and viruses
- Retention hyperkeratosis dermnet
- Chapter 6 musculoskeletal system diseases and disorders
- Chapter 24 sexually transmitted diseases and hiv/aids
- Chapter 22 genetics and genetically linked diseases
- Chapter 21 mental health diseases and disorders
- Chapter 17 reproductive system diseases and disorders
- Chapter 15 nervous system diseases and disorders
- Nail diseases and disorders milady
- Elsevier
- Plicatured nail treatment
- Icd 10 morbus hansen
- Chapter 8 cardiovascular system
- Pulp and periapical diseases
- Milady chapter 8 skin disorders and diseases
- Venn diagram of communicable and non-communicable diseases
- Purulent diseases of lungs and pleura
- Tronsmo plant pathology and plant diseases download
- Tronsmo plant pathology and plant diseases download
- Albugo eye
- Venn diagram of communicable and non-communicable diseases
- Vitamins and their functions sources and deficiency chart