Human Genetic Disorders and Karyotype Organization

1. Chapter 12 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. Amniocentesis ___________________ is a test in which a needle is inserted through the mother’s abdomen and some of the fluid surrounding the fetus is withdrawn to test for genetic problems. 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. 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 group of genes carried on the same chromosome and usually inherited together Linkage group

7. 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.

8. 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.

9. 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) Male pattern baldness (males)

10. Chorionic villi sampling _____________________ is a test in which a sample of the tissue is taken from the tissue surrounding the baby and tested to see if the fetus has any genetic disorders. Give an example of Y linked gene. Hairy ears(pinna)

11. SEX INFLUENCED A trait carried on autosomes but affected by a person’s sex hormones (like male pattern baldness) is said to be _____________________ 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 multiple allele

12. 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

13. point The change in a single base of the DNA code is called a ___________ mutation. An _______________ happens when a piece of DNA breaks off, gets flipped around, and reattaches backwards in the strand. INVERSION

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

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

16. 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

17. pedigree This picture shows a ___________________ Karyotype Pedigree Punnett square The mutation caused when a piece of a chromosome is missing is called a ________ Addition substitution inversion deletion deletion

18. Substitution A point mutation in which one base in the code is replaced with a different base is called a Addition deletion substitution inversion A trait that is NOT polygenic is Height skin color A,B,O blood type eye color A,B,O blood type is a multiple allele trait NOT polygenic

19. This is used to show possiblegenotypes of offspring. It is called a _______________ Karyotype Pedigre Punnett square Punnett Square A genetic mutation in which an extra base is added to the DNA code is called a Addition deletion substitution inversion Addition (also called an insertion)

20. TRUE or FALSE When 1 egg and 1 sperm form a zygote that splits into balls of cells, the babies will have identical DNA. TRUE A B O blood type is a ___________ trait. Multiple allele polygenic sex linked Multiple allele

21. Doctor’s check the level of ________________ in the mother’s blood to see if the baby’s spinal cord and brain are growing correctly. Alpha-feto protein • X-linked genes _______________ • Only show up in girls • Show up more frequently in boys • can be heterozygous in boys • only pass from mothers to daughters Show up more frequently in males

22. 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

23. 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

24. A mutation in which a certain piece of DNA is copied over and over is called a ____________ Deletion substitution inversion duplication duplication The genes that cause a person’sred blood cells to change into this sickle shape is inherited as an (choose 2) Autosomal Dominant X-linked Recessive Autosomal recessive

25. 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

26. 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.

27. The gene that causes malepattern baldness is Sex linked sex influenced Y linked Sex influenced BB’ in males = bald BB’ in females = not bald It is also AUTOSOMAL DOMINANT When homologous chromosomes don’t separate during meiosis it is called _________________ nondisjunction

28. What mutation is it? deletion Piece of DNA breaks off and is lost ____________________ Piece of DNA breaks off, flips backwards, and reattaches ____________________ Piece of DNA breaks off and reattaches To a non-homologous chromosome _____________________ Extra piece of DNA is added into the sequence _______________________ One nucleotide in a codon is replacedwith another _______________________ Failure of homologous chromosomesto separate during meiosis ________________________ inversion translocation Insertion (addition) substitution Non-disjunction

29. thefatcat ranandran theatcatranandran the fat cat ran and ran the atc atr and ndr an Addition or deletion of part of the DNA code can cause the remaining codons to move up or down the line in the code resulting in a misreading of the code. This is called a ______________ mutation. frameshift Which parent determines the sex of the baby? father

30. 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

31. Name 3 disorders that are: Phenylketonuria (PKU) Sickle cell anemia Cystic fibrosis Autosomal recessiveX linked recessive _______________ _______________ ________________ _______________ ________________ _______________ Hemophilia Colorblindness Muscular dystrophy Name 3 disorders that is caused by nondisjunction: ___________________ ___________________ ___________________ Down’s syndrome Turner’s syndrome Kleinfelter’s syndrome

32. A trait that is X linked will _____________ show up more in females than males be carried on an autosome appear more in males than females be carried by males Appear more in males than females 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.

33. Chromosomal abnormality like Down or Turner syndrome LOW AFP in the mom’s blood suggests what? Test that can be done earlier than amniocentesis in which cells from the tissue around the baby aresampled and checked for genetic defects Chorionic villi sampling (CVS)

34. less Genes that are closer together on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart. more less How is a pedigree different from a karyotype? Pedigree shows how a trait is passed along through the generations in a family; Karyotype shows the chromosomes from just one person

35. ABO Blood type Give an example of a MULTIPLE ALLELE trait. Give an example of a POLYGENIC trait. Hair color foot size skin color nose length eye color intelligence height

36. Spina bifida HIGH AFP in the mom’s blood suggests what? Name a disadvantage of doing amnioncentesis or chorionic villi sampling Can cause miscarriage

37. Twins with identical DNA that come from the same egg and sperm are called Monozygotic or Maternal TRUE or FALSE Sex influenced genes are found on the X chromosome. False; they are autosomal. They are influenced by the sex hormones of a person.

38. Name the test Needle is inserted through abdomen and amniotic fluid containing baby cells is removed and tested ____________________ Blood test done on mother to measure level of a protein made by the baby ___________________ Piece is removed from tissue surrounding baby and tested for abnormalities ___________________ Cell is smashed, chromosomes are matched up, and a picture is taken ______________________ amniocentesis Alpha feto protein Chorionic villi sampling karyotype

39. Deletion or insertion(any change that is not in multiples of 3) Name a kind of mutation that causes a frame shift. 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.

40. 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.

41. Sex linked traits are carried on sex chromosomes. Sex influenced traits are carried on autosomes but are affected by a person’s sex hormones. How is a sex linked trait different from a sex influenced trait? The deletion of a single nucleotide base would result in _________________. nondisjunction monosomy a translocation a frame shift mutation a frame shift mutation; Everything gets moved over one place in the code

42. more Genes that are farther apart on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart. more less 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.

43. Some traits are determined by more than one gene (POLYGENIC) Some traits have more than 2 allele choices (MULTIPLE ALLELE) Some genes are linked to other genes Genes can move during crossing over OR “Jump” like in corn Tell one way genetics in humans in MORE COMPLICATED than Mendel thought

44. Explain why frame shift mutations at the beginning of a gene are more damaging than those at the end Frame shift at beginning damages more of the code.

45. A sex influenced gene A man and a woman have the same genotype for a trait, but only one of them shows the trait. This would be an example of ________________________ Down’s syndrome is an example of _______________. monosomy trisomy a sex linked a recessive gene mutation TRISOMY; three of one chromosome

46. 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

47. 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

48. What disorder is it? Conjoined twins Twins that are born joined together ____________________ Males with an extra X chromosome ______________________(XXY) karyotype; some female features;infertility Pattern of hair loss in which _____________________ homozygous persons(male& female) & heterozygousmales lose their hair in a predictable pattern Failure of the bone and skin to grow correctly and cover the spinal cord __________________________ Kleinfelter syndrome Male pattern baldness Spina bifida

49. 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

50. Dominant/recessive?Autosomal/X-linked/nondisjunction Autosomal recessive Phenylketonuria ____________________ Down syndrome ____________________ Sickle cell anemia _____________________ Kleinfelter syndrome ____________________ Huntington’s disease ______________________ Male pattern baldness _________________ nondisjunction Autosomal recessive nondisjunction Autosomal dominant Autosomal dominant