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NAME _____________________________ Chapter 14 -GENETIC DISORDERS TEST (2 points each) MATCHING: Match the genetic disorder with its description. ________ Change in hemoglobin gene causes red blood cells to change shape causing circulatory problems ________ Degenerative brain disorder caused by extra CAG repeats in the gene code whose symptoms appear around middle age which results in nursing home care and eventually death ________ Inability to distinguish between certain colors (especially red and green) _______ Mutation in a blood clotting protein so individuals can’t stop bleeding if injured _______ Mutation in gene that breaks down the amino acid phenylalanine which accumulates in their brain and persons become retarded if they eat foods containing phenylalanine. _______ Mutation in muscle proteins that gradually weakens and destroys muscle tissue _______ Syndrome in which a person has an extra #21 chromosome causing mental retardation and often heart defects _______ Females with only one X chromosome (XO) _______ Males with extra X chromosomes (XXy, XXXy, XXXXy) _______ Defect protein that transports Cl- ions causing mucous to build up in lungs and digestive organs _______ Enzyme defect that causes lipids to build up in the brain; Results in blindness, retardation, and death by age 5 _______ Defect in bone formation causing normal size head and torso but short arms and legs A. ACHONDROPLASIA B. HUNTINGTON’s C. COLORBLINDNESS D. TAY-SACHS E. HEMOPHILIA F. SICKLE CELL DISEASE G. CYSTIC FIBROSIS H. PHENYLKETONURIA I. TURNER’S J. DOWN K. KLINEFELTER’S L. DUCHENNE MUSCULAR DYSTROPHY MATCHING: Match the genetic disorder with its description. ________ Change in hemoglobin gene causes red blood cells to change shape causing circulatory problems ________ Degenerative brain disorder caused by extra CAG repeats in the gene code whose symptoms appear around middle age which results in nursing home care and eventually death ________ Inability to distinguish between certain colors (especially red and green) _______ Mutation in a blood clotting protein so individuals can’t stop bleeding if injured _______ Mutation in gene that breaks down the amino acid phenylalanine which accumulates in their brain and persons become retarded if they eat foods containing phenylalanine. _______ Mutation in muscle proteins that gradually weakens and destroys muscle tissue _______ Enzyme defect that causes lipids to build up in the brain; Results in blindness, retardation, and death by age 5 _______ Defect in bone formation causing normal size head and torso but short arms and legs _______ Syndrome in which a person has an extra #21 chromosome causing mental retardation and often heart defects _______ Females with only one X chromosome (XO) _______ Males with extra X chromosomes (XXy, XXXy, XXXXy) _______ Defect protein that transports Cl- ions causing mucous to build up in lungs and digestive organs A. TAY-SACHS B. ACHONDROPLASIA C. HUNTINGTON’s D. COLORBLINDNESS E. HEMOPHILIA F. CYSTIC FIBROSIS G. DOWN SYNDROME H. KLINEFELTER’S I. TURNER’S J. SICKLE CELL DISEASE K. PHENYLKETONURIA L. DUCHENNE MUSCULAR DYSTROPHY MATCHING: Match the genetic disorder with its description. ________ Change in hemoglobin gene causes red blood cells to change shape causing circulatory problems ________ Degenerative brain disorder caused by extra CAG repeats in the gene code whose symptoms appear around middle age which results in nursing home care and eventually death ________ Inability to distinguish between certain colors (especially red and green) _______ Mutation in a blood clotting protein so individuals can’t stop bleeding if injured _______ Mutation in gene that breaks down the amino acid phenylalanine which accumulates in their brain and persons become retarded if they eat foods containing phenylalanine. _______ Defect protein that transports Cl- ions causing mucous to build up in lungs and digestive organs * * * _______ * * * * * * * * Mutation in muscle proteins that gradually weakens and destroys muscle tissue _______ Enzyme defect that causes lipids to build up in the brain; Results in blindness, retardation, and death by age 5 _______ Defect in bone formation causing normal size head and torso but short arms and legs _______ Syndrome in which a person has an extra #21 chromosome causing mental retardation and often heart defects _______ Females with only one X chromosome (XO) _______ Males with extra X chromosomes (XXy, XXXy, XXXXy) A. B. C. D. E. F. * A. B. C. D. E. F. PHENYLKETONURIA CYSTIC FIBROSIS HUNTINGTON’s COLORBLINDNESS HEMOPHILIA SICKLE CELL DISEASE * * * TURNER’S SYNDROME DOWN SYNDROME TAY-SACHS KLINEFELTER’S ACHONDROPLASIA DUCHENNE MUSCULAR DYSTROPHY NAME _____________________________ Chapter 14 -GENETIC DISORDERS TEST (2 points each) MULTIPLE CHOICE: Put the letter of the answer that best completes the statement on the blank at the left. _______ In humans an XX genotype makes you a ___________________ A. male B. female C. mutant D. carrier _______ In humans an Xy genotype makes you a ____________________. A. male B. female C. mutant D. carrier ________ __________________ cell mutations happen in sperm or eggs and can be passed on to the offspring. A. body B. somatic C. germ D. allele ________ __________________ cell mutations happen in body cells so they affect the organism itself, but are NOT passed on to offspring. A. gamete B. somatic C. germ D. allele ________ ____________________ mutations cause death, often before birth. A. somatic cell B. X-linked C. germ cell D. lethal ________ A gene that is carried on an X or Y chromosome is called ______________________. A. sex influenced B. sex linked C. autosomal D. lethal ________ The failure of homologous chromosomes to separate during meiosis is called ______________ A. nondisjunction B. frameshift C. crossing over D. synapsis ________ A family record that shows how a trait is inherited over several generations is called a _____________ A. karyotype B. Punnett square C. pedigree D. periodic table ________ A person that has one copy of a recessive autosomal allele and does not express the trait but can pass it on to his/her offspring is called a __________________. A. mutant B. carrier C. hemophiliac D. gene marker ________ _______________________ can be carriers for AUTOSOMAL RECESSIVE disorders. A. Only males B. Only females C. Both males and females ________ _______________________ can be carriers for X-LINKED RECESSIVE disorders. A. Only females B. Only males C. Both males and females ________ A human zygote with 3 copies of a chromosome would have 47 chromosomes instead of 46. This condition is called ____________________. A. monosomy B. disomy C. tetrads D. trisomy ________ _____________________________ twins have identical DNA. A. monozygotic B. dizygotic C. fraternal D. trisomic ________ This picture of an organism’s chromosomes is called a ______________________ A. pedigree B. Punnett square C. karyotype ________ The chromosomes that DO NOT determine sex are called ____________________ A. sex chromosomes B. autosomes C. gene markers D. pedigree partners ________ Which parent determines the sex of the baby? A. father B. mother ________ The dense region in the nucleus of female cells that forms when one of the X chromosomes is randomly inactivated is called a _____________________ body. A. autosomal B. sex-linked C. nucleolus D. Barr ________ Turner’s syndrome is an example of a _____________________ disorder. A. trisomy B. monosomy C. somatic cell mutation ________ X-linked recessive disorders show up more frequently in ____________________. A. females B. males ________ Sickle cell disease is found more frequently in __________________________ populations. A. Jewish B. Caucasion C. African American ________ Tay-Sachs disease is found more frequently in_________________________ populations. A. male B. Caucasion C. African American D. Jewish Which members of this family show the trait? (Circle all that apply) A B C D E F Which members of this family are carriers for the trait? (Circle all that apply) A B C D E F Which member of this family is a MALE without the trait? A B C D E F SHORT ANSWER: If you had a baby born with Phenylketonuria, tell how you could keep it from becoming retarded. ________________________________________________________________________________ Explain why X-linked disorders show up more frequently in MALES. _______________________________________________________________________ _______________________________________________________________________ What is the correct term for twins that are born attached together? __________________________________________ * * * * * * * * * * * * * * * BONUS: Which genetic disorder can be found in a pedigree showing the royal families in Europe? __________________________________ What trait changes in female cats as a result of the production of Barr bodies. _______________________________ Name the autosomal recessive disorder carried on chromosome #21 mentioned in your book, that is named after a famous baseball player. _______________________________________________ USE THE DISORDERS IN THE WORD BANK TO ANSWER THE FOLLOWING: (You don’t need to use them all.) ACHONDROPLASIA TAY-SACHS PHENYLKETONURIA (PKU) HEMOPHILIA DUCHENNE MUSCULAR DYSTROPHY HUNTINGTON’S DOWN SYNDROME TURNER’S SYNDROME KLINEFELTER’S SYNDROME CYSTIC FIBROSIS COLORBLINDNESS SICKLE CELL DISEASE Name 2 Disorders caused by an X-LINKED RECESSIVE gene: ____________________________________ ____________________________________ Name 2 Disorders caused by NON-DISJUNCTION _____________________________________ _____________________________________ Name 2 disorders caused by an AUTOSOMAL RECESSIVE gene: _____________________________________ _____________________________________ Name 1 disorder that is caused by an AUTOSOMAL DOMINANT gene: _____________________________________ Name 1 disorder that is caused by an AUTOSOMAL CODOMINANT gene: _____________________________________