Describe the composition of the protein part of normal adult hemoglobin. (2 marks) Cys UGU Tyr UAU UCU Phe UUU UGC UAC Ser UAC UUC Stop UGA Stop UAA UCA Leu UUA Trp UGG UAG UCG UUG CGU His CAU CCU CUU Arg CGC CAC Pro CCC Leu CUC CGA Gin CAA CCA CUA CGG CAG CCG CUG Ser AGU Asn AAU ACU Ile AUU AGC AAC Thr ACC AUC Arg AGA Lys AAA ACA Met AUA AGG AAG ACG AUG GGU Asp GAU GCU GUU Gly GGC GAC Ala GCC Val GUC GGA Glu GAA GCA GUA GGG GAG GCG GUG Case 3: DNA testing of a malignant tumor revealed methylated promoter of p53 tumor suppressor gene in this tumor in a homozygous state. (8 marks) 1. Define epigenetics. (1 mark) 2. Explain how promoter methylation affect gene expression. (3 marks) 3. What is the effect of methylated p53 on p21 gene expression. (1 mark) 4. Explain how does this affect cell cycle progression. (3 marks) Case 4: At age of 6 months a boy showed signs of slow motor development. Both urinary uric acid and serum urate were abnormally increased. Lesch-Nyhan syndrome was suspected. (5 marks) 1. Name the enzyme defective in this case. (1 mark) 2. Explain how this enzymatic defect led to excessive urate excretion. (4 marks) September, 2015 Answer all the following five questions: A 24 year old lady suffering from systemic recently developed massive proteinuria. Lab testing of this patient revealed antibodies against splicesomes. Describe the structure and function of spliceosomes. (4 List the major plasma proteins in a normal person. (2 marks)
Describe the composition of the protein part of normal adult hemoglobin. (2 marks) Cys Stop Trp UGU UGC UGA UGG Tyr Stop UAU UAC UAA UAG Ser UCU UAC UCA UCG Phe Leu UUU UUC UUA UUG Arg CGU CGC CGA CGG His Gin CAU CAC CAA CAG Pro CCU CCC CCA CCG Leu CUU CUC CUA CUG Ser Arg AGU AGC AGA AGG Asn Lys AAU AAC AAA AAG Thr ACU ACC ACA ACG Ile Met AUU AUC AUA AUG Gly GGU GGC GGA GGG Asp Glu GAU GAC GAA GAG Ala GCU GCC GCA GCG Val GUU GUC GUA GUG Case 3: DNA testing of a malignant tumor revealed methylated promoter of p53 tumor suppressor gene in this tumor in a homozygous state. (8 marks) 1. Define epigenetics. (1 mark) 2. Explain how promoter methylation affect gene expression. (3 marks) 3. What is the effect of methylated p53 on p21 gene expression. (1 mark) 4. Explain how does this affect cell cycle progression. (3 marks) Case 4: At age of 6 months a boy showed signs of slow motor development. Both urinary uric acid and serum urate were abnormally increased. Lesch-Nyhan syndrome was suspected. (5 marks) 1. Name the enzyme defective in this case. (1 mark) 2. Explain how this enzymatic defect led to excessive urate excretion. (4 marks) September, 2015 Answer all the following five questions: A 24 year old lady suffering from systemic recently developed massive proteinuria. Lab testing of this patient revealed antibodies against splicesomes. Describe the structure and function of spliceosomes. (4 List the major plasma proteins in a normal person. (2 marks)
1st_year_exam_201606072740.docx