Basie medical college of fudan University Final Exam of medical Genetics in 2015-2016(1) MBBS A Name Student number: section I ABC Total scores A Multiple choice questions (select the single correct answer( 20%) 1. Spina Bifid a is a type of serious birth defect. Which one of the follow supplements is widely used to reduce the risk of Spina Bifida? B. tetracycline C. Folic acid D DHA E. Insul 2. Cardiovascular diseases are the lead ing causes of deaths globally. Of the following cardiovascular diseases, which one is usually not considered as a congenital heart defect? A. Tricuspid Atresia B. Loeffler endocard itis C. Tetralogy of Fallot D. Transposition of the Great Arteries E. Ventricular Septal Defect 3. Birth defects affect about 3% babies born in the United States each year. Which of the following birth defects is the most common one? A Spina bifida B. Club foot C Anencephaly D. Cleft lip/palate E Down Syndrome
Basic Medical College of Fudan University Final Exam of Medical Genetics in 2015-2016 (1) MBBS □ A Name ： Student Number： section A B C Total scores scores A. Multiple choice questions (select the single correct answer)( 20%) 1. Spina Bifida is a type of serious birth defect. Which one of the follow supplements is widely used to reduce the risk of Spina Bifida? A. Vitamin C B. Tetracycline C. Folic acid D. DHA E. Insulin 2. Cardiovascular diseases are the leading causes of deaths globally. Of the following cardiovascular diseases, which one is usually not considered as a congenital heart defect? A. Tricuspid Atresia B. Loeffler endocarditis C. Tetralogy of Fallot D. Transposition of the Great Arteries E. Ventricular Septal Defect 3. Birth defects affect about 3% babies born in the United States each year. Which of the following birth defects is the most common one? A. Spina Bifida B. Club foot C. Anencephaly D. Cleft lip/palate E. Down Syndrome
4. Which of the following clinical features are not characteristic of famil ial cancer syndromes? A. Two or more independent primary tumors in a single individual B. More often involve mutation in tumor suppressor genes than oncogenes C One or more close relatives are affected by the same rare tumor D Observed tumor types are rarely seen as sporad ic cancers E. Earlier mean age of cancer onset, compared to sporadic form of the same tumor type 5. Each of the following have been observed as mechan isms resulting in the activation of a proto-oncogene EXCEPT A. A chromosome trans location fusing portions of the oncogene and another cellular B Inactivation of an oncogene by epigenetic modification C. a point mutation altering the function of the oncogene protein product D. Capture of the oncogene sequence by a retrovirus E. Amplification of an oncogene as small, sub-chromosomal fragments(double minutes) 6. Approximately how many base pairs are found in the human haploid genome? A6,200,000(62 million) B6,200000,000(62 billion) C6,200,000000062 trillion) D3,100000,000(3.1 billion) E3,100,0000000003. I trillion) 7. Which genomic component is often used to produce DNA"fingerprints"of individuals for use in legal proceedings? A copy number variants(CNVs) B single nucleotide polymorphism(SNPs) D euchromatin E telomere 8. How many chromosomes comprise the normal human karyotype? 48 autosomal chromosomes plus 2"sex"chromosomes B46 autosomal chromosomes plus 2"sex"chromosome C 44 autosomal chromosomes plus 2"sex"chromosomes D42 autosomal chromosomes plus 2"sex chromosomes E40 autosomal chromosomes plus 2"sex"chromosomes
4. Which of the following clinical features are NOT characteristic of familial cancer syndromes? A. Two or more independent primary tumors in a single individual B. More often involve mutation in tumor suppressor genes than oncogenes C. One or more close relatives are affected by the same rare tumor D. Observed tumor types are rarely seen as sporadic cancers E. Earlier mean age of cancer onset, compared to sporadic form of the same tumor type 5. Each of the following have been observed as mechanisms resulting in the activation of a proto-oncogene EXCEPT: A. A chromosome translocation fusing portions of the oncogene and another cellular gene B. Inactivation of an oncogene by epigenetic modification C. A point mutation altering the function of the oncogene protein product D. Capture of the oncogene sequence by a retrovirus E. Amplification of an oncogene as small, sub-chromosomal fragments (double minutes) 6. Approximately how many base pairs are found in the human haploid genome? A 6,200,000 (6.2 million) B 6,200,000,000 (6.2 billion) C 6,200,000,000,000 (6.2 trillion) D 3,100,000,000 (3.1 billion) E 3,100,000,000,000 (3.1 trillion) 7. Which genomic component is often used to produce DNA “fingerprints” of individuals for use in legal proceedings? A copy number variants (CNVs) B single nucleotide polymorphism (SNPs) C microsatellites D euchromatin E telomeres 8. How many chromosomes comprise the normal human karyotype? A 48 autosomal chromosomes plus 2 “sex” chromosomes B 46 autosomal chromosomes plus 2 “sex” chromosomes C 44 autosomal chromosomes plus 2 “sex” chromosomes D 42 autosomal chromosomes plus 2 “sex” chromosomes E 40 autosomal chromosomes plus 2 “sex” chromosomes
9. Which of the following cannot be explained by abnormal recombination? A Robersonian translocations B unbalanced translocations Ci nversions d deletions E point mutation 10. Which of the following is a false statement? A Methy lation of dNA most frequently occurs on C residues in CpG dinucleotides B Methy lated DNA is usually associated with open, transcriptionally active chromatin C Methy lated dNa is usually associated with compact, transcriptionally inactive chromatin D Chromosomal Imprinting involves the transmission of methylated DNA from parents to their offspring E DNA methy lation is one of the mechanisms underlying"epigenetic"regulation of gene expression 11. Which of the following is a false statement? A The enzyme telomerase catalyzes the shortening of chromosomal telomeres B The enzyme telomerase catalyzes the lengthening of chromosomal telomeres C In many types of cells, telomeres become a little shorter with each cell division. D The progressive shortening of telomeres is caused by the inability to prime synthesis of the agging dna strand E Abnormal shortening of telomeres causes chromosome instability and cell death. 12. Which of the following is a false statement? A Prader-Willi syndrome is often caused by the loss of the ability to express genes from the paternally inherited chromosome that cannot be expressed from the maternally inherited hromosome due to imprinting B Prader-Willi syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting C Angelman syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting. d Loss of paternally expressed genes can be caused by: i)deletions of the paternal chromosome, ii) maternal uniparental disomy or iii)imprinting defects in the paternally inherited chromosome E Angelman syndrome can also be caused by point mutations in the UBE3 gene 13. Which of the following statements is false a penetrance refers the to the percentage of individuals who carry a disease-causing mutation who show have symptoms of the disease, regardless of the severity of the sympt B penetrance is a measure of the severity of symptoms experienced by individuals who carry a disease-causing mutation. C expressivity is a measure of the severity of symptoms experienced by individuals who carry a disease-causing mutation
9. Which of the following cannot be explained by abnormal recombination? A Robersonian translocations B unbalanced translocations Ci nversions D deletions E point mutations 10. Which of the following is a false statement? A Methylation of DNA most frequently occurs on C residues in CpG dinucleotides. B Methylated DNA is usually associated with open, transcriptionally active chromatin. C Methylated DNA is usually associated with compact, transcriptionally inactive chromatin. D Chromosomal Imprinting involves the transmission of methylated DNA from parents to their offspring. E DNA methylation is one of the mechanisms underlying “epigenetic” regulation of gene expression. 11. Which of the following is a false statement? A The enzyme telomerase catalyzes the shortening of chromosomal telomeres. B The enzyme telomerase catalyzes the lengthening of chromosomal telomeres. C In many types of cells, telomeres become a little shorter with each cell division. D The progressive shortening of telomeres is caused by the inability to prime synthesis of the lagging DNA strand. E Abnormal shortening of telomeres causes chromosome instability and cell death. 12. Which of the following is a false statement? A Prader-Willi syndrome is often caused by the loss of the ability to express genes from the paternally inherited chromosome that cannot be expressed from the maternally inherited chromosome due to imprinting. B Prader-Willi syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting. C Angelman syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting. D Loss of paternally expressed genes can be caused by: i) deletions of the paternal chromosome, ii) maternal uniparental disomy or iii) imprinting defects in the paternally inherited chromosome. E Angelman syndrome can also be caused by point mutations in the UBE3 gene. 13. Which of the following statements is false? A penetrance refers the to the percentage of individuals who carry a disease-causing mutation who show have symptoms of the disease, regardless of the severity of the symptoms. B penetrance is a measure of the severity of symptoms experienced by individuals who carry a disease-causing mutation. C expressivity is a measure of the severity of symptoms experienced by individuals who carry a disease-causing mutation
d differences in penetrance and/or expressivity among carriers of the same disease-causing mutation often obscures the pattern of inheritance of single gene(Mendelian)disorders E Differences in penetrance and expressivity among carriers of the same disease-causing mutation can be caused by "environmental factors(e.g, diet, etc. )as well as genetic factors (e.g, disease-modify ing genes, etc.) 14. Which of the following is an incorrect matching between the named family relationship and the percentage of shared (autosomal)DNA? a brother and sister: 50% B first-cousins: 25% C father and daughter: 50% D grandmother and grandson: 25% E great-grandfather and great-grandson: 12.5% 15. 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 glucose-6-phosphate dehydrogenase deficiency 16. 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 17. 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 18. Which of the following statements is false? A Haplotypes are ordered sequences of genoty pes B Haploty pes are ordered sequences of alleles C There are fewer haplotypes in human populations than the theoretical maximum
D differences in penetrance and/or expressivity among carriers of the same disease-causing mutation often obscures the pattern of inheritance of single gene (Mendelian) disorders. E Differences in penetrance and expressivity among carriers of the same disease-causing mutation can be caused by “environmental” factors (e.g., diet, etc.) as well as genetic factors (e.g., disease-modifying genes, etc.) 14. Which of the following is an incorrect matching between the named family relationship and the percentage of shared (autosomal) DNA? A brother and sister: 50% B first-cousins: 25% C father and daughter: 50% D grandmother and grandson: 25% E great-grandfather and great-grandson: 12.5% 15. 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 16. 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 17. 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. 18. Which of the following statements is false? A Haplotypes are ordered sequences of genotypes B Haplotypes are ordered sequences of alleles. C There are fewer haplotypes in human populations than the theoretical maximum
d The paucity of haplotypes in human populations reflects the relative"youth"ofthese populations E The linkage disequilibrium constant D' provides a quantitative measure for the tendency of certain alleles to be inherited together from generation to generation 19. 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 apoptosis C Mitochondria are also the source of beneficial free radicals d Sperm contain approximately 100 mitochondria and oocy tes approximately 100,000 mitochondria. E All of our cells contain mitochondria inherited exclusively from our mother. 20. Which of the following is a false statement? A The mitochondrial genome comprises circular double-stranded DNA containing-166k 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 B Terminology and Short answer questions(40%) 1. Birth defect Birth defects are defined as abnormal ities of structure, function, or body metabolism that are present at birth 2. amniocentesis A sample of the amniotic fluid surround ing the fetus is withdrawn through a needle inserted into the mothers uterus 3. 5p-syndrome A syndrome of multiple congenital anomalies, mental retardation, microcephaly abnormal face, and a mewing cry in infants with deletion of a B group chromosome(Bp-) later identif ied as Sp- 4. Oncogenes and tumor suppressor genes Oncogenes: mutation, overactive or overexpressed forms of proto-or 5. Mitochondrial disease Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function
D The paucity of haplotypes in human populations reflects the relative “youth” of these populations. E The linkage disequilibrium constant D’ provides a quantitative measure for the tendency of certain alleles to be inherited together from generation to generation. 19. 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. 20. 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. B. Terminology and Short answer questions(40%) 1. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. 2. Amniocentesis A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus 3. 5p- syndrome A syndrome of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with deletion of a B group chromosome (Bp-), later identified as 5p-. 4. Oncogenes and tumor suppressor genes Oncogenes: mutation, overactive or overexpressed forms of proto-oncogenes. 5. Mitochondrial disease Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function
C Long answer questions(60%) 1. What are the differences between birth defects and birth injuries? 2. List all potential causes of birth defects 3. Explain why is familial retinoblastoma known to be inherited as an autosomal dominant trait when the responsible gene is recessive? 4. Mr A, 28years old, is a patient of DMD. His wife, 25, their first baby is Down syndrome. Now they plan to have a 2nd baby, and come to you, the doctor, please help them 5. Look at the following pedigree, which inheritance model it is? Why ○【○ 6. Mr B, 30 years old, is a patient of asthma. His wife want to know if their 2 years old daughter will have asthma too? Which kind of prevention they can do?
C. Long answer questions(60%) 1. What are the differences between birth defects and birth injuries? 2. List all potential causes of birth defects 3. Explain why is familial retinoblastoma known to be inherited as an autosomal dominant trait when the responsible gene is recessive? 4. Mr A ,28years old, is a patient of DMD. His wife, 25, their first baby is Down syndrome. Now they plan to have a 2nd baby, and come to you, the doctor, please help them. 5. Look at the following pedigree , which inheritance model it is? Why？ 6.Mr B ,30 years old, is a patient of asthma. His wife want to know if their 2 years old daughter will have asthma too? Which kind of prevention they can do?