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Genetic Disorders Review What is the disorder? • Chromosome 11 • Inability to manufacture melanin • Often shifting back and forth of eyes • ANSWER: ALBINISM What is the disorder? • Polygenic • More common among Asians • Opening in lip and roof of mouth • ANSWER: cleft lip/cleft palate What is the disorder? • Sex-linked trait • Lack AHF factor • “bleeder’s disease: • ANSWER: hemophilia What is the disorder? • Chromosome #4 • Too many copies of CAG – causes atrophy of the brain • Does not manifest itself until 20’s-30’s • ANSWER: Huntington’s What is the disorder? • On X-chromosome • Weakening of muscles • Calf muscles enlarge first, usually in young boys • ANSWER: Duchenne Muscular Dystrophy What is the disorder? • Chromosome #15 • Accumulation of fat on the brain leads to degeneration of the nervous system • Highest in Eastern European Jews • ANSWER: Tay Sachs What is the disorder? • Nondisjunction • XXY • Sterile, small testes, breast enlargement in males • ANSWER: Klinefelters What is the disorder? • Nondisjunction • Trisomy 21 • Mental retardation, round face, extra fold on eyes, sluggish muscles • ANSWER: Down Syndrome What is the disorder? • Chromosome #12 • Breakdown of products of phenylalanine • Mental retardation if diet does not omit phenylalanine • ANSWER: PKU What is the disorder? • Red blood cells collapse • Carriers are somewhat resistant to malaria • Found mostly in African-Americans and people of Mediterranean • ANSWER: sickle-cell anemia What is the disorder? • Nondisjunction • Female XO, sterile • Web between neck and shoulders • ANSWER: Turner Syndrome What is the disorder? • Sex-linked trait • XcY would be affected male • Inability to detect certain colors • ANSWER: color blindness What is the disorder? • Dominant chromosome #4 • Short stature, trident hand, prominent forehead • Dwarfism Aa • ANSWER: Achrondroplasia What is the disorder? • Dementia • Memory loss, confused • Plaque on the brain • ANSWER: Alzheimers What is the disorder? • Long limbs, enlarged aorta • Spidery fingers • Abe Lincoln had it • ANSWER: Marfans What is the disorder? • Polygenic trait • Shunt in brain to drain off fluid • Opening of the vertebral column • ANSWER: Spina bifida What is the disorder? • Chromosome #7-salty skin in symptom • Lack enzyme to break down mucous in respiratory and digestive tract • Treatment with pounding chest • ANSWER: Cystic Fibrosis What is this diagram called? A.Pedigree B.Punnett square C.Kayrotype What is this diagram called? A.Punnett square B.Pedigree C.Kayrotype ANSWER: C What is this diagram called? A. Punnett square B. Pedigree C. Karyotype What is this diagram called? A. Punnett square B. Pedigree C. Karyotype ANSWER: B What disorder is this? A. TURNERS B. KLINEFELTERS C. DOWNS D. METAFEMALE What disorder is this? A. TURNERS B. KLINEFELTERS C. DOWNS D. METAFEMALE ANSWER: XXY Klinefelters What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS ANSWER: D What are the chances of… • two Achrondroplasia parents having a normal sized child? • HINT: AA = dead • Aa = achondroplasia • aa = normal • ANSWER: 25% What are the chances… • Of a father with hemophilia and a wife of no hemophilia gene having a child with hemophilia? Could any children be carriers? • ANSWER: 0% children; girls are carriers What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALE D. DOWNS ANSWER: A Which disorders ARE NOT caused by nondisjunction? • • • • • Klinefelters Turners Cystic Fibrosis Trisomy 21 Hemophilia • ANSWERS: • Cystic Fibrosis • Hemophilia What is the genotypic ratio of the offspring of parents AO and BO? A B O O What is the genotypic ratio of the offspring of parents AO and BO? A O B AB BO O AO OO What is the phenotypic ratio? What is the genotypic ratio of the offspring of parents AO and BO? A O B AB BO O AO OO What is the phenotypic ratio? 25% each blood types A, B, AB, O What type of blood can each of these blood types RECEIVE? • • • • • A+ O+ OAB+ B- • • • • • O+, A+ Only O+ Only OAll + O-, B- In which phase of mitosis • Are the chromosomes stopped to make a karyotype? • A. prophase • B. telophase • C. metaphase • D. anaphase • ANSWER: METAPHASE How are the chromosomes arranged • • • • • In a karyotype? A. smallest to largest B. largest to smallest C. by color D. by shape • ANSWER: B Who is the oldest child in generation III? Who is the oldest child in generation III? • #1 If red hair is recessive and is shaded in, how many boys and how many girls have red hair? If red hair is recessive and is shaded in, how many boys and how many girls have red hair? • 2 boys + 2 girls Is this person a male or female? Is this person a male or female? • MALE Is this person male or female? Is this person male or female? • MALE • Normal Or what Disorder? Is this person male or female? • MALE • Klinefelters Is this a male or female? Is this a male or female? • Female- Normal or a disorder? Is this a male or female? • Female- TURNERS SYNDROME This is a sex-linked trait. Why is there no trait (shaded) in Generation II, but can be in III? Just carriers in Generation II. Which is NOT a sex-linked trait? • • • • Klinefelters Color-Blindness Hemophilia Duchenne Muscular Dystrophy • ANSWER: Klinefelters Which is NOT genetic disorder? • • • • Color Blindness AIDS Marfans Tay Sachs • ANSWER: • AIDS Make a Punnett Square for two parents AS for sickle-cell anemia. Make a Punnett Square for two parents AS for sickle-cell anemia. A A S S Make a Punnett Square for two parents AS for sickle-cell anemia. A A S AA (normal RBC) AS (resistant to malaria) S AS (resistant to malaria) SS (sickle-cell disease)