Chapter 14 Review

1. Chapter 14 Review Human Genetic Disorders

2. karyotype This organized picture of an individual’s chromosomes is called a __________________ The person in this picture is a male female Female There are 2 X and no y chromosomes.

3. The genetic disorder in which the person can’t make the protein needed to make their blood clot is called ______________________ hemophilia Name an X-linked genetic disorder. Hemophilia, colorblindness, Duchenne Muscular dystrophy

4. carrier A person who has a copy of the gene for a recessive disorder but doesn’t show any signs of the sickness is called a _________________ A person with trisomy-21 (three #21 chromosomes) has ____________ Down syndrome

5. Genetic disorder in which a person can NOT breakdown phenylalanine and eating foods containing this amino acid causes them to become retarded. Phenylketonuria (PKU) TRUE or FALSE Males can NOT be carriers for autosomal recessive disorders. False. Males CAN carry AUTOSOMAL disorders, they just can’t be carriers for X linked disorders.

6. zygote The cell that forms when an egg and a sperm join together is called a _______________ TRUE or FALSE GERM cell mutations can be passed on to offspring. TRUE : Germ cells are reproductive cells. Changes in the DNA of these cells is passed on to the offspring.

7. Genetic disorder in which the DNA code for hemoglobin is changed. Red blood cells with the damaged hemoglobin protein, change into a sickle shape and clog up the blood vessels. Sickle cell anemia TRUE or FALSE An autosomal trait is found on the X chromosome FALSE Autosomes are the chromosomes thatare NOT sex chromosomes.

8. Polygenic A trait that is controlled by several genes (like skin color or height) is called ______________ Give an example of an autosomal dominant genetic disease. Huntington’s ; Achondroplasia (dwarfism)

9. Multiple allele A trait in which there are three or more choices for a single gene (like A, B, and O blood type) is a ____________ trait. polygenic multiple allele Give an example of Y linked gene. Hairy ears(pinna)

10. TRUE or FALSE Dizygotic or fraternal twins have identical DNA False They come from 2 different eggs and 2 different sperm Eye color is a _____________ trait. Polygenic Multiple allele sex linked polygenic

11. SOMATIC A body cell is also called a ______________ cell. ______________ mutations cause deathoften before birth. LETHAL

12. A person with the Xy genotype would be male female male A _________ cell mutation happens in sperm or egg cells. GERM

13. Conjoined Twins which don’t separate entirely and remain attached by some body part are called ______________ Which person shows the genetic trait? A B A C

14. Maternal or MONOZYGOTIC Twins that come from one sperm and egg are called _____________ Which person is a carrier for the trait? A B C C D

15. pedigree This picture shows a ___________________ Karyotype Pedigree Punnett square • X-linked genes _______________ • Only show up in females • Show up more frequently in males • can be heterozygous in males • only pass from mothers to daughters Show up more frequently in males

16. TRUE or FALSE MONOZYGOTIC (or maternal) TWINS have identical DNA. TRUE Name the disease that individual’s who are heterozygous for the sickle cell allele show resistance to. malaria

17. Sickle cell anemia is more common in ____________________ Males females African Americans Caucasians African Americans Cystic fibrosis is more common in ___________ Males females African Americans Caucasians Caucasians

18. X-linked A gene that is carried on the X chromosome A trait with 3 or more choices for a gene (like A B and O blood type alleles) Multiple allele trait

19. Twins with different DNA that come from 2 different egg and sperm are called dizygotic or Fraternal TRUE or FALSE Sex linked genes are found on the X or y chromosome. True; sex LINKED means they are on one of the sex chromosomes.

20. BARR BODY Dark spot in the nucleus made when one of the X chromosomes in females is inactivated When homologous chromosomes don’t separate during meiosis it is called _________________ nondisjunction

21. Which type of mutation can be passed along to offspring? Somatic cell mutation Germ cell mutation Germ cell mutation Which of the following is NOT visiblein a karyotype ? Sex of baby Missing or extra chromosomesa point mutation Point mutations

22. Name 3 disorders that are: Phenylketonuria (PKU) Tay-Sach’s Cystic fibrosis Autosomal recessiveX linked recessive _______________ _______________ ________________ _______________ ________________ _______________ Hemophilia Colorblindness Muscular dystrophy Name 3 disorders that is caused by nondisjunction: ___________________ ___________________ ___________________ Down syndrome Turner’s syndrome Klinefelter’s syndrome

23. Name disorders that are: Autosomal Dominant ________________ ________________ Huntington’s Achondroplasia Autosomal Codominant ___________________ Sickle cell disease

24. father Which parent determines the sex of the baby? What is the difference between a germ cell mutation and a somatic cell mutation? Somatic cells are body cells and mutations in these cells are NOT passed on to offspring. Germ cells are reproductive cells. Mutations in these cells CAN be passed on to offspring.

25. Twins with identical DNA that come from the same egg and sperm are called Monozygotic or Maternal Chromosomes that DON’T determine sex are called ____________________ autosomes

26. Achondroplasia Other name for “Dwarfism” TRUE or FALSE Females can be carriers for X linked genes. True; they have 2 X chromosomes. So they can have one normal gene and one mutant gene.

27. zygote The cell that forms when an egg and a sperm join together is called a _______________ TRUE or FALSE Somatic cell mutations can be passed on to offspring. False; they are in body cells. They can make the cell unable to function; cause cancer; or kill the body cell BUT are NOT PASSED ON TO OFFSPRING.

28. TRUE TRUE or FALSE Females can be carriers for X linked genes Why do X-linked recessive disorders show up more in males than females? Males only have one X. If they get the gene it will show. Females have a 2nd X that can “hide” the disorder gene. They need 2 copies of the gene to show disorder. Males don’t have a “back up” X.

29. What disorder is it? Mutation in the blood clotting protein makes person unable to stop bleeding after an injury _______________ Mutation in hemoglobin causes red blood cells to change shape and ____________________ clog up blood vessels Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________ Three #21 chromosomes are present causing mental retardation _______________________ Mutation in ion channel protein causesthick mucous to clog up lungs and digestive organs _______________________ Hemophilia Sickle cell anemia Phenylketonuria (PKU) Down syndrome Cystic fibrosis

30. What disorder is it? Gradual deterioration of the brainthat appears during middle age resulting in nursing home care and early death ____________________ Progressive weakening of muscleproteins resulting in inability to walkand eventually death _________________________ Inability to distinguish betweenthe colors red and green _____________________ Only one X and no y chromosome ____________________ resulting in infertility Huntington’s disease (HD) Duchenne Muscular dystrophy Colorblindness Turner syndrome

31. What disorder is it? Conjoined twins Twins that are born joined together ____________________ Males with an extra X chromosome ______________________(XXY) karyotype; some female features;infertility Lipids build up in brain causingblindness, retardation, & early death _________________________ Disorder in bone growth so torso __________________________ and head are normal size but armsand legs are short Klinefelter syndrome Tay-Sachs achondroplasia

32. Dominant/recessive?Autosomal/X-linked/nondisjunction Nondisjunction Turner syndrome ____________________ Cystic fibrosis ____________________ Hemophilia _____________________ Colorblindness __________________ Phenylketonuria ___________________ Duchenne muscular dystrophy ________________ Autosomal recessive X-linked recessive X-linked recessive Autosomal recessive X-linked recessive

33. Dominant/recessive?Autosomal/X-linked/nondisjunction Autosomal recessive Phenylketonuria ____________________ Down syndrome ____________________ Sickle cell anemia _____________________ Klinefelter syndrome ____________________ Huntington’s disease ______________________ Tay-Sachs _________________ nondisjunction Autosomal CODOMINANT nondisjunction Autosomal dominant Autosomal recessive