DNA Genes Chromosomes and Cells Your body is

DNA, Genes, Chromosomes, and Cells

• Your body is made of trillions of cells, each one with a nucleus.

• Inside each nucleus are 46 chromosomes.

You got 23 from mom, 23 from dad

• Chromosomes are made of many genes https: //www. you tube. com/watch ? v=ae. AL 6 x. Thf. L 8 DNA and instructions for life http: //www. connectmydna. com/the-science/

• Genes are made of long sections of DNA (deoxyribonucleic acid) DNA https: //w ww. youtu be. com/ watch? v =zwibg. N Ge 4 a. Y What is DNA http: //abcnews. go. com/blogs/business/2013/04/letter-on-dna-structure-sells-for-record-5 -3 -million/

• Some of the genes you inherit are dominant, some of them are recessive.

Human Genome https: //www. youtube. com/watch? v=s 6 r. JLXq 1 Re 0 TED talk: How to read a genome and build a human

• Scientists can look at these genes on your chromosomes and use them to help diagnose disease or provide better treatment. http: //cpmc. coriell. org/ You may soon go to your doctor with a picture of your chromosomes

Karyotype

Normally babies have cells with 46 chromosomes

Normal sperm and egg cells each have 23 chromosomes

A picture of a cell’s chromosomes is called a karyotype.

Chromosomes are paired up and lined up according to their patterns and size.

We use “cartoon” versions of chromosomes to make our task easier. The different patterns on chromosomes are different genes for traits

A karyotype can be used to diagnose a disease or determine gender

Boys are XY, girls are XX for chromosome #23

Sometimes there are extra or missing chromosomes

Genetic disorder Turner Syndrome karyotype change one X only for chromosome 23 How often does it occur? 1 in 2000 Physical Symptoms normal female in childhood, normal intelligence, fails to fully undergo puberty and will remain infertile http: //www. turnersyndrome. org/ welcome-turner-syndromesociety-us

Genetic disorder Klinefelter Syndrome karyotype change XXY for chromosome 23 How often does it occur? 1 in 750 Physical Symptoms male, normal in appearance and intelligence, sterile, may show some female characteristics (breast development, feminine body shape) http: //ghr. nlm. nih. gov/condition/klinef elter-syndrome

Genetic disorder Cri du Chat Syndrome karyotype change deleted part of chromosome 5 How often does it occur? 1 in 50, 000 Physical Symptoms distinctive catlike cry in babies, respiratory problems, shortened life span is possible http: //www. fivepminus. org/

Genetic Disorder Down Syndrome karyotype change 3 copies of chromosome 21 How often does it occur? 1 in 800 Physical Symptoms mental retardation, eyes slant upwards, prone to heart defects and respiratory problems. http: //www. ndss. org/

Genetic disorder Triple X Syndrome karyotype change XXX for chromosome 23 How often does it occur? 1 in 700 Physical Symptoms female with normal intelligence and appearance, may be sterile http: //www. mayoclinic. com/health/trip le-x-syndrome/DS 01090

Genetic disorder Edwards Syndrome karyotype change 3 copies of chromosome 18 How often does it occur? 1 in 6, 000 Physical Symptoms feeding and breathing difficulties, developmental delays, deformation of head and face, cardiac defects, often results in early death (fewer than 10% live for a year) http: //www. trisomy 18. org/s ite/Page. Server? pagename =parents_whatis. T 18

Genetic Disorder Patau Syndrome karyotype change 3 copies of chromosome 13 How often does it occur? 1 in 15, 000 Physical Symptoms mental retardation, cleft palate, extra fingers and toes, incomplete development of internal organs, often results in early death http: //www. ncbi. nlm. nih. gov/pubmedhe alth/PMH 0002625/

Genetic Disorder Trisomy 23 karyotype change XYY for chromosome 23 How often does it occur? 1 in 2, 000 Physical Symptoms male with low mental ability, normal in appearance http: //ghr. nlm. nih. gov/condition/47 xyy-syndrome

Turner’s Syndrome (one X)

Klinefelter’s Syndrome (XXY)

Cri du Chat Syndrome (deleted part of chromosome 5)

Down Syndrome (3 copies of #21) http: //www. youtube. com/watch? v=Ju-q 4 On. Bt. NU

Karyotypes can be made for a fully formed human or for a developing fetus.

Why would a parent want to know a child’s karyotype? To determine risk of a genetic disorder or the gender of the child. Early testing can help parents prepare physically and emotionally for the birth of their child. They can be better prepared to meet the needs of their child with early intervention and care.

Even plants can have a karyotype made of their chromosomes for identification purposes

Genetic testing can now be used to search for potential diseases • Breast/ovarian cancer (#17 and 13) • Alzheimer’s (#19) • Cystic Fibrosis (#7) • Autism (#15 is different if the person has this disease-not yet known why this happens)

Genetic testing can also be used to determine gender, especially in cases of elite athletes. http: //www. hhmi. org/biointeractive/gendertest. html http: //www. nytimes. com/2010/04/08/sports/08 sportsbriefs-semenya. html http: //news. bbc. co. uk/2/hi/programmes/newsnight/9373209. stm

Your task: • You will receive a sample of chromosomes from a developing fetus. • You must arrange the chromosomes according to size and pattern into a karyotype. • You will then determine the gender and disease this child may have (if any). • Conclusion questions and karyotype are due on Monday.

Johnson

Instructions: 1. Carefully cut apart the chromosomes, do NOT lose any! 2. Using the “Normal Karyotype” as your guide, arrange the patient’s chromosomes according to the same pattern. 3. Glue/Tape the chromosomes into place on the attached paper. 4. Compare your patient’s karyotype to the normal karyotype and the disease chart to determine, what disease, if any, the child has.

Johnson Last Name of Baby: _____ Gender of Baby: ______ Baby’s Disorder: ______

Genetic Disorder Down's Syndrome Turner's Syndrome Klinefelter Syndrome 3 copies of chromosome 21 one X only for chromosome 23 XXY for chromosome 23 1 in 800 1 in 2000 1 in 750 1 in 50, 000 mental retardation, eyes slant upwards, prone to heart defects and respiratory problems. normal female in childhood, normal intelligence, fails to fully undergo puberty and will remain infertile male, normal in appearance and intelligence, sterile, may show some female characteristics (breast development, feminine body shape) distinctive cat-like cry in babies, respiratory problems, shortened life span is possible Triple X Syndrome Edward's Syndrome Patau Syndrome Trisomy 23 karyotype change XXX for chromosome 23 3 copies of chromosome 18 3 copies of chromosome 13 XYY for chromosome 23 How often does it occur? 1 in 700 1 in 6, 000 1 in 15, 000 1 in 2, 000 karyotype change How often does it occur? Physical Symptoms Genetic Disorder Physical Symptoms female with normal intelligence and appearance, may be sterile feeding and breathing difficulties, developmental delays, deformation of head and face, cardiac defects, often results in early death mental retardation, cleft palate, extra fingers and toes, incomplete development of internal organs, often results in early death Cri du Chat Syndrome deleted part of chromosome 5 male with low mental ability, normal in appearance