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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 suggestionb) 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
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