复旦大学：《医学遗传学 Medical Genetics》课程教学资源（习题与解答）2012-2013（1）-A answer

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS 口A Section A Term explanation(24%) 1 Prion disease Infectious genetic disease, induced by prion(a kind of protein located on cell membrane of neuron) 2. Turner syndrome 45, xo, have both short stature and signs of ovarian failure on physical examination 3 X Chromosome inactivation X Chromosome heterochromatin is condensed chromatin that unfolds and becomes transcriptionally active during some portion of the cell cycle (Barr body 4. Co-dominant inheritance Co-dominance occurs when the contributions of both alleles are visible in the phenotype. Like ABOexample

Shanghai Medical College of Fudan University Final Exam of Medical Genetics in 2012-2013 (1) MBBS □ A Section A Term explanation (24%) 1. Prion disease Infectious genetic disease, induced by prion(a kind of protein located on cell membrane of neuron ) 2. Turner syndrome 45,xo, have both short stature and signs of ovarian failure on physical examination 3 X Chromosome inactivation X Chromosome heterochromatin is condensed chromatin that unfolds and becomes transcriptionally active during some portion of the cell cycle (Barr body). 4. Co-dominant inheritance Co-dominance occurs when the contributions of both alleles are visible in the phenotype. Like ABO example

5. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth 6. Oncogene Oncogenes are mutated forms of genes that cause normal cells to grow out of control and become cancer cells 7. LHON(Leber's; Hereditary; Optic; Neuropathy) Mitochondria disease, common mutations is G11778A. Clinical features Visual loss pattern 8. Comp lex disorders Several, but not an unlimited number; loci are involved in the expression of the trait. The loci act in concert in an additive fashion, each adding or detracting a small amount from the phenotype. The environment interacts with the genotype to produce the final phenotype Section B short-answer questions(25%) 1. Explain the classification of genetic diseases single-gene disorders chromosome disorders multifactorial disorders somatic cell genetic disorders. mitochondrial disorders

5. Birth defect Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. 6. Oncogene Oncogenes are mutated forms of genes that cause normal cells to grow out of control and become cancer cells. 7. LHON( Leber's; Hereditary; Optic; Neuropathy) Mitochondria disease, common mutations is G11778A. Clinical features: Visual loss pattern 8. Complex disorders Several, but not an unlimited number, loci are involved in the expression of the trait. The loci act in concert in an additive fashion, each adding or detracting a small amount from the phenotype. The environment interacts with the genotype to produce the final phenotype. Section B Short-answer questions (25%) 1. Explain the classification of genetic diseases single-gene disorders . chromosome disorders multifactorial disorders somatic cell genetic disorders . mitochondrial disorders

2. Exp lain the characteristic of mitochondrial disease Threshold effect Mitotic segregation Maternal inheritance 3. Describe the symptoms and the genotype of Cystic fibrosis An autosomal recessive disorder caused by mutations in the cF transmembrane regulator gene (CFTR) located at 7q31.2. Symptoms include: abnormal chloride ion transport in exocrine tissues leading to the accumulation of mucus in hangs, sinuses, intestines, pancreas and male reproductive tract. 4. analyze the pedigree, what inheritance model do you think? Why? XD 5. analyze the pedigree, what inheritance model do you think? why? Ylinked Section C: Consulting questions(51%) 1. Key points: mothers age and down syndrome 2. schizophrenia is poly gene disorder and the risk is related with relative class. CPEO is mitochondrial disease and it is maternal inheritance 3. Hemop hilia B is XR model, and draw the pedigree of the family

2. Explain the characteristic of mitochondrial disease Threshold effect Mitotic segregation Maternal Inheritance 3. Describe the symptoms and the genotype of Cystic fibrosis An autosomal recessive disorder caused by mutations in the CF transmembrane regulator gene (CFTR) located at 7q31.2.Symptoms include: abnormal chloride ion transport in exocrine tissues leading to the accumulation of mucus in lungs, sinuses, intestines, pancreas and male reproductive tract. 4. analyze the pedigree，what inheritance model do you think? Why? XD 5. analyze the pedigree，what inheritance model do you think? Why? Y linked Section C: Consulting & questions(51%) 1. Key points: mothers age and Down syndrome. 2. schizophrenia is polygene disorder and the risk is related with relative class. CPEO is mitochondrial disease and it is maternal Inheritance. 3. Hemophilia B is XR model, and draw the pedigree of the family

4. Describe the clinical features of a chromosome' disorder its effect on the normal human karyotype and one or more methods by which the hromosomal defect can be detected

4. Describe the clinical features of a “chromosome” disorder, its effect on the normal human karyotype and one or more methods by which the chromosomal defect can be detected