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NAME _____________________________ f12 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 A. ACHONDROPLASIA B. HUNTINGTON’s C. COLORBLINDNESS D. TAY-SACHS E. HEMOPHILIA F. SICKLE CELL DISEASE G. CYSTIC FIBROSIS H. PHENYLKETONURIA I. TURNER SYMDROME J. DOWN SYNDROME K.KLINEFELTER SYNDROME L. DUCHENNE MUSCULAR DYSTROPHY ________ Degenerative brain disorder caused by extra CAG repeats in the gene code whose symptoms appear around middle age and result 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 in ion channels which transport 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 resulting in a person with a normal size head and torso, but short arms and legs NAME _____________________________ f12 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 A. TAY-SACHS B. ACHONDROPLASIA C. HUNTINGTON’s D. COLORBLINDNESS E. HEMOPHILIA F. CYSTIC FIBROSIS G. DOWN SYNDROME H.KLINEFELTER SYMDROME I. TURNER SYNDROME J. SICKLE CELL DISEASE K. PHENYLKETONURIA L. DUCHENNE MUSCULAR DYSTROPHY ________ Degenerative brain disorder caused by extra CAG repeats in the gene code whose symptoms appear around middle age and result 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 resulting in a person with 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 in ion channels which transport Cl- ions causing mucous to build up in lungs and digestive organs NAME _____________________________ f12 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 A. B. C. D. E. F. PHENYLKETONURIA CYSTIC FIBROSIS HUNTINGTON’s COLORBLINDNESS HEMOPHILIA SICKLE CELL DISEASE ________ 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 in ion channels which transport 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 resulting in a person with a 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. TURNER SYNDROME B. DOWN SYNDROME C. TAY-SACHS D.KLINEFELTER SYNDROME E. ACHONDROPLASIA F. DUCHENNE MUSCULAR DYSTROPHY MULTIPLE CHOICE: Tell how each of the following disorders is inherited: _______ Achondroplasia A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Sickle Cell Disease A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction _______ Hemophilia A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Tay-Sachs disease A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction _______ Down syndrome A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Colorblindness A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction _______ Duchenne Muscular Dystrophy A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Phenylketonuria (PKU) A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction _______ Cystic Fibrosis A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Turner syndrome A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction _______ Klinefelter syndrome A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction ________ Huntington’s disease A. autosomal dominant B. autosomal recessive C. autosomal COdominant D. X-linked recessive E. nondisjunction 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 ________ ________ ________ _________________ cell mutations happen in sperm or eggs and can be passed on to the offspring. A. Body B. Somatic C. Germ D. Allele ____________________ mutations cause death, often before birth. A. Somatic cell B. X-linked C. Germ cell D. Lethal __________________ 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 _______ In humans an Xy genotype makes you a ____________________. A. male B. female C. mutant D. carrier ________ 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 cell 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. Caucasians C. African American ________ Tay-Sachs disease is found more frequently in_________________________ populations. A. male B. Caucasion C. African American D. Jewish or Middle Eastern ________ Cystic fibrosis is found more frequently in _______________________ populations. A. male B. Caucasion C. African American D. Jewish or Middle Eastern Match the symbol letter with the correct description (Circle ONE best answer) Which member of this family shows the trait? A B C D E F Which represents a male is a carrier for this trait? A B C D E F A and E in the diagram above are __________________ A. normal females B. normal males C. diseased males D. diseased females B and D in the diagram above are __________________ A. normal males B. carrier males C. diseased females D. carrier females * * * * * * * * * * * * * BONUS Which genetic disorder can be found in a pedigree showing the royal families of Europe? A. Huntington’s disease B. hemophilia C. colorblindness D. Achondroplasia What trait changes in female cats as a result of the production of Barr bodies? A. length of whiskers B. length of tail C. length of hair D. spot color * *