Q. 40-year-old male who was diagnosed with rectal cancer. Left colectomy was carried out. A histopathologic diagnosis of poorly differentiated adenocarcinoma. Family history revealed the five family members were diagnosed with colorectal cancer, and two successive generations affected. All malignancies were diagnosed before 45 years of age. Microsatelliteinstability was detected on genetic analysis of tissue of the proband. It is caused by a defect of
Base Excision repair
Mismatch repair
Nucleotide Excision repair
ds DNA Break repair
Q. A 45-year-old male is detected to have fasting and postprandialhyperglycemia in the diagnostic range of diabetes. To understand his long-term glycemic control, he is asked to estimate his HbA1c. Chromatogram detects an abnormalhemoglobin peak, corresponding to Hb Bristol. His oxygen-carrying capacity is normal. Hb Bristol is an example of:
Silent Mutation
Acceptable mutation
Partially acceptable mutation
Nonsense mutation
Q. A 25-year-old male presents with a skin infection with yellowish crusts on the face. Impetigo was diagnosed, and Mupirocinointment was prescribed. Mupirocin acts by
Inhibiting the binding of RNApolymerase to +1 site
Q. A family was reported with many cases of mental retardation and developmental delay. Some presented with retinitis pigmentosa. 3 neonatal deaths with lacticacidosis in the family forced them to consult a geneticist. A pedigree chart was drawn (attached). DNA was extracted from all affected members. PCRRFLP detected a point mutation (transversion) at one specific site. The explanation for variable presentation caused by a single mutation site is:
Phenotypic heterogeneity
Pleiotropy
Allelic heteroeneity
Heteroplasmy
Explanation
Phenotypic Heterogeneity:
Multiple site mutations in a gene present with various presentations.
Ex: Crigler Najjar Syndrome type 1 or 2 or sometimes mild rotor syndrome.
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