Basic Medical College of Fudan University Final Exam of Medical genetics in 2015-2016(1) MBBS B ame Student number: section A B C Total scores scores A. Multiple choice questions(select the single correct answer( 20%) 1. Which of the following comprises the smallest percentage of human nuclear genome? a)RNA genes b) heterochromatin c)retroviral/transposon-derived sequences d) protein coding sequences e)other sequences 2. Which of the following is not a component of human nuclear chromosomes? a)D-loops b)telomeres centromere d) heterochromatin e)euchromatin 3. Which of the following is a true statement? a)Spermatogenesis and oogenesis both begin post-puberty b) Spermatogenesis begins in the early fetus and is completed soon after birth c)Oogenesis is initiated just prior to birth and continues after pub d)Oogenesis is initiated in the early fetus and continues after puberty e)Oogenesis is completed prior to birth 4. Recom bination between the y chromosome and the x chromosome occurs a)within the pseudo-autosomal regions of the Y and x chromosomes during meiosis in b)within the pseudo-autosomal regions of the Y and X chromosomes during meiosis males c) within the pseudo-autosomal regions of the y and X chromosomes during mitosis in females
Basic Medical College of Fudan University Final Exam of Medical Genetics in 2015-2016 (1) MBBS □ B Name ： Student Number： section A B C Total scores scores A. Multiple choice questions (select the single correct answer)( 20%) 1. Which of the following comprises the smallest percentage of human nuclear genome? a) RNA genes b) heterochromatin c) retroviral/transposon-derived sequences d) protein coding sequences e) other sequences 2. Which of the following is not a component of human nuclear chromosomes? a) D-loops b) telomeres c) centromeres d) heterochromatin e) euchromatin 3. Which of the following is a true statement? a) Spermatogenesis and oogenesis both begin post-puberty b) Spermatogenesis begins in the early fetus and is completed soon after birth c) Oogenesis is initiated just prior to birth and continues after puberty d) Oogenesis is initiated in the early fetus and continues after puberty e) Oogenesis is completed prior to birth 4. Recombination between the Y chromosome and the X chromosome occurs: a) within the pseudo-autosomal regions of the Y and X chromosomes during meiosis in females. b) within the pseudo-autosomal regions of the Y and X chromosomes during meiosis in males. c ) within the pseudo-autosomal regions of the Y and X chromosomes during mitosis in females
d)within the pseudo-autosomal regions of the Y and X chromosomes during mitosis in males. e)within the telomeres of X and Y chromosomes during meiosis in females 5. Which of the following diseases has not been proposed to be caused by mutations under positive selection due to"heterozygote advantage"for resistance to an infectious disease? a)sickle-cell anemia b)thalassemia c)cystic fibrosis d)neurofibromatosis e)glucose-6-phosphate dehydrogenase deficiency 6. Which of the following is a false statement? a)Nonsense-mediated decay protects cells from the accumulation of mutant proteins b) Incorrectly spliced mRNAs are often eliminated via the nonsense-mediated decay pathway c)Indels within the 3-untranslated region (3-UTR) are likely to trigger mRNA degradation nonsense-mediated de d) Coding region Indels comprising numbers of nucleotides that are not evenly divided b 3 are likely to trigger mrna degradation via nonsense-mediated decay e) Non-sense mediated decay of mRNA encoding rate-limiting enzymes is often the mechanism underlying diseases caused by haploinsufficiency 7. Which of the following genetic diseases in not caused by expansion of a triplet repeat? a)Huntington's disease b)Alzheimers disease c)Fragile X disease d) Myotonic dystrophy e)Friedreich ataxia 8. hich of the following statements is false a)Relative risk for family members is defined as ratio of i)the prevalence of a disease among family members who share the same percentage of DNA with a proband to ii) the prevalence of the disease in the general population b)The relative risk for developing schizophrenia among relatives decreases with decreasing percentage of shared DNA with a proband with schizophrenia. c)Shared environments among relatives is a confounding factor in analyses aimed at quantify ing genetic contributions o this disorder d) The relative liability of developing schizophrenia can be modeled as a quantitative trait that is normally distributed in the population and among sets of family members who share the same degree of relatedness to a proband with schizophrenia. e)The chance of a person developing schizophrenia depends only upon types of genes the person has inherited from his/her parents
d) within the pseudo-autosomal regions of the Y and X chromosomes during mitosis in males. e) within the telomeres of X and Y chromosomes during meiosis in females. 5. Which of the following diseases has not been proposed to be caused by mutations under positive selection due to “heterozygote advantage” for resistance to an infectious disease? a) sickle-cell anemia b) thalassemia c) cystic fibrosis d) neurofibromatosis e) glucose-6-phosphate dehydrogenase deficiency 6. Which of the following is a false statement? a) Nonsense-mediated decay protects cells from the accumulation of mutant proteins. b) Incorrectly spliced mRNAs are often eliminated via the nonsense-mediated decay pathway. c) Indels within the 3’-untranslated region (3’-UTR) are likely to trigger mRNA degradation via nonsense-mediated decay. d) Coding region Indels comprising numbers of nucleotides that are not evenly divided by 3 are likely to trigger mRNA degradation via nonsense-mediated decay. e) Non-sense mediated decay of mRNA encoding rate-limiting enzymes is often the mechanism underlying diseases caused by haploinsufficiency. 7. Which of the following genetic diseases in not caused by expansion of a triplet repeat? a) Huntington’s disease b) Alzheimer’s disease c) Fragile X disease d) Myotonic dystrophy e) Friedreich ataxia 8. Which of the following statements is false? a) Relative risk for family members is defined as ratio of: i) the prevalence of a disease among family members who share the same percentage of DNA with a proband to ii) the prevalence of the disease in the general population. b) The relative risk for developing schizophrenia among relatives decreases with decreasing percentage of shared DNA with a proband with schizophrenia. c) Shared environments among relatives is a confounding factor in analyses aimed at quantifying genetic contributions to this disorder. d) The relative liability of developing schizophrenia can be modeled as a quantitative trait that is normally distributed in the population and among sets of family members who share the same degree of relatedness to a proband with schizophrenia. e) The chance of a person developing schizophrenia depends only upon types of genes the person has inherited from his/her parents
9. Which of the following is a false statement a) Most SNPs have only two alleles b) Microsatellites and minisatellites usually have many alleles c)Microsatellites are often used as genetic markers in pedigree-based linkage studies d)SNPs are often used for genetic finger printing of forensic DNA samples e)SNPs are often used as genetic markers in genomewide association studies 10. Which of the following is not considered to be complex disorder? a) Cancer b) Huntingtons disease c)Alzheimer's disease d) Parkinsons disease e)Type-2 diabetes 11. Which of the following is a false statement? a)Somatic cells each contain roughly 200-2000 mitochondria b) Mitochondria carry out many important cellular functions, including the production of ATP, oxidation of fatty acids, regulation of intracellular Ca levels and regulation of c)Mitochondria are also the source of beneficial free radicals d) Sperm contain approximately 100 mitochondria and oocytes approximately 100,000 mitochondria e)All of our cells contain mitochondria inherited exclusively from our mother 12. Which of the following is a false statement? a)The mitochondrial genome comprises circular double-stranded DNA containing 166k b)The mitochondrial genome includes 37 genes: 13 protein coding genes, 22 tRNA genes and 2 ribosomal RNA genes c)Mitochondrial genes do not contain introns d) Mitochondria use the universal genetic code for the translation of proteins. e)Mitochondrial tRNAs contain special modifications to allow the recognition of"wobble Nucleotides within degenerate codons. 13. which of the following is a false statement? a)Mitochondrial DNA is replicated by DNA polymerase-gamma b)dNa polymerase-gamma is encoded in the nuclear genome c)Mutations in DNA polymerase-gamma are the cause of several mitochondrial disorders, including, chronic progressive external ophthalmoplegia(CPEO) d) CPeO symptoms include the inability to move the eyes and the inability to fully open the eyelids e)CPEO is always inherited from the mother
9. Which of the following is a false statement? a) Most SNPs have only two alleles. b) Microsatellites and minisatellites usually have many alleles. c) Microsatellites are often used as genetic markers in pedigree-based linkage studies. d) SNPs are often used for genetic finger printing of forensic DNA samples. e) SNPs are often used as genetic markers in genomewide association studies. 10. Which of the following is not considered to be complex disorder? a) Cancer b) Huntington’s disease c) Alzheimer’s disease d) Parkinson’s disease e) Type-2 diabetes 11. Which of the following is a false statement? a) Somatic cells each contain roughly 200 -2000 mitochondria. b) Mitochondria carry out many important cellular functions, including the production of ATP, oxidation of fatty acids, regulation of intracellular Ca2+ levels and regulation of apoptosis. c) Mitochondria are also the source of beneficial free radicals. d) Sperm contain approximately 100 mitochondria and oocytes approximately 100,000 mitochondria. e) All of our cells contain mitochondria inherited exclusively from our mother. 12. Which of the following is a false statement? a) The mitochondrial genome comprises circular double-stranded DNA containing 16.6 k bp b) The mitochondrial genome includes 37 genes: 13 protein coding genes, 22 tRNA genes and 2 ribosomal RNA genes. c) Mitochondrial genes do not contain introns. d) Mitochondria use the universal genetic code for the translation of proteins. e) Mitochondrial tRNAs contain special modifications to allow the recognition of “wobble” Nucleotides within degenerate codons. 13. Which of the following is a false statement? a) Mitochondrial DNA is replicated by DNA polymerase-gamma. b) DNA polymerase-gamma is encoded in the nuclear genome. c) Mutations in DNA polymerase-gamma are the cause of several mitochondrial disorders, including, chronic progressive external ophthalmoplegia (CPEO). d) CPEO symptoms include the inability to move the eyes and the inability to fully open the eyelids. e) CPEO is always inherited from the mother
14. Patients with familial retinoblastoma carry a germline mutation in one copy of the rb gene. Potential mechanisms for inactivation of the other allele in a retinoblastoma tumor arising in one of these patients include a)An independent point mutation b) Loss of the normal chromosome 13 c)Mitotic crossing over d )all of the above e)None of the above 15. Autism is a common neurodevelopmental disorder. Which of the follow symptoms is not typical in Autism patients? a) Delayed physical growth b)Inappropriate toy play d) Lack of awareness of danger c) Hyperacti e) Inability to relate to other people 16. Chromosome aberrations are characterized by missing, extra, or irregular portion of chromosomal DNA. Which of the following genetic defects is not caused by chromosome aberrations? b)Klinefelter syndrome c)Turner Syndrome d) Cri-du-chat syndrome e) Marfan Syndrome 17. Neural tube defects are one of the most common birth defects affecting over 300,000 births globally each year. Which of the following ones is not a type of neural tube defect? a)Craniorachischisis b) meningocele c)Anen d)In e)Polymelia a) Turner syndrome b)lhon c) Mad cow disease d DMd e)Spina Bifida 19. Which of following is not at correct match between the named individual named and listed contribution to genetics? a)Gregor Mendel: discovered simple patterns of inheritance of discrete traits
14. Patients with familial retinoblastoma carry a germline mutation in one copy of the Rb gene. Potential mechanisms for inactivation of the other allele in a retinoblastoma tumor arising in one of these patients include: a) An independent point mutation b) Loss of the normal chromosome 13 c) Mitotic crossing over d)All of the above e)None of the above 15. Autism is a common neurodevelopmental disorder. Which of the follow symptoms is not typical in Autism patients? a) Delayed physical growth b) Inappropriate toy play d) Lack of awareness of danger c) Hyperactivity or passiveness e) Inability to relate to other people 16. Chromosome aberrations are characterized by missing, extra, or irregular portion of chromosomal DNA. Which of the following genetic defects is not caused by chromosome aberrations? a) Jacobsen syndrome b) Klinefelter syndrome c) Turner Syndrome d) Cri-du-chat syndrome e) Marfan Syndrome 17. Neural tube defects are one of the most common birth defects, affecting over 300,000 births globally each year. Which of the following ones is not a type of neural tube defect? a) Craniorachischisis b) Meningocele c) Anencephaly d) Iniencephaly e) Polymelia 18. Which is prion disease: a) Turner syndrome b) LHON c) Mad cow disease d)DMD e)Spina Bifida 19.Which of following is not at correct match between the named individual named and listed contribution to genetics? a) Gregor Mendel: discovered simple patterns of inheritance of discrete traits
b)Archibald Garrod: first to describe the pattem inheritance of recessive diseases in c)Thomas Hunt Morgan: discovered that genes reside within dNA d)Linus Pauling: the first to identify the molecular cause of human genetic disease e) Ronald Fisher: showed that the inheritance of continuous human traits can be explained in terms of the inheritance of multiple discrete factors(genes) 20. Which of the following is an incorect matching between the named disease and listed mode of inheritance? a)Neurofibromatosis: autosomal dominant b)cystic fibrosis: autosomal recessive c)ABO blood types: co-dominant d)Acondroplasia: X chromosome-linked e)Azoospermia: Y chromosome-linked B Terminology and Short answer questions(40%) 1 Germline vs somatic mutation 2. DMD 3. Sickle cellanemia 4. Down Syndrome 5. Polydactyly C Long answer questions(40%) 1. Epidemiological studies clearly show that: (1)the cumulative risk of dying from lung cancer increases rapidly with the increasing of age, (2)the risk is significantly associated with smoking status. What do you suppose is the biological basis for these observations? 2. Describe three major symptoms of Down Syndrome 3. Briefly describe three types of Spina Bifida 4. Briefly describe three types of congenital heart defects and their causes 5. Mr A, and his wife has asthma, they have a boy (5 years old )with hemophilia a Now they hope to have a healthy baby, please give them some suggestion
b) Archibald Garrod: first to describe the pattern inheritance of recessive diseases in humans c) Thomas Hunt Morgan: discovered that genes reside within DNA d) Linus Pauling: the first to identify the molecular cause of human genetic disease e) Ronald Fisher: showed that the inheritance of continuous human traits can be explained in terms of the inheritance of multiple discrete factors (genes) 20.Which of the following is an incorrect matching between the named disease and listed mode of inheritance? a) Neurofibromatosis: autosomal dominant b) cystic fibrosis: autosomal recessive c) ABO blood types: co-dominant d) Acondroplasia: X chromosome-linked e) Azoospermia: Y chromosome-linked B. Terminology and Short answer questions(40%) 1. Germline vs. somatic mutation: 2. DMD 3. Sickle cellanemia 4. Down Syndrome 5. Polydactyly C. Long answer questions(40%) 1. Epidemiological studies clearly show that: (1) the cumulative risk of dying from lung cancer increases rapidly with the increasing of age, (2) the risk is significantly associated with smoking status. What do you suppose is the biological basis for these observations? 2. Describe three major symptoms of Down Syndrome 3. Briefly describe three types of Spina Bifida 4. Briefly describe three types of congenital heart defects and their causes 5. Mr A , and his wife has asthma, they have a boy (5 years old) with hemophilia A Now they hope to have a healthy baby, please give them some suggestion