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2927 Biochemistry

A 28-year-old man presents to the emergency room (ER) with a large amount of blood and protein in his urine. He has had a sensorineural hearing loss since his teen years and has misshaped lenses (anterior lenticonus). The physician is suspicious of a genetic disorder that may lead to eventual kidney failure. If this is the case, the patient most likely has a mutation in which one of the following proteins?

ASpectrin
Ba1-Antitrypsin
CCollagen
DFibrillin
Biochemistry
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2928 Biochemistry

Isoelectric pH is

APoint at which all amino acids are in zwitterion form
BPoint at which pH of ions are same.
CPoint at which pH of ions does not alter.
DPoint at which positive and negative charges on the amino acid are equal.
Biochemistry
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2931 Biochemistry

Meera is a 43-year-old woman with a body mass index (BMI) of 32. She presented with abnormal uterine bleeding to her gynecologist, who performed an endometrial biopsy that indicated endometrial cancer, specifically endometrial adenocarcinoma of endometrioid histology.Meera’s family history is significant for colon cancer. Her mother was diagnosed with colon cancer at age 66. Her paternal aunt was diagnosed with endometrial cancer at age 67. Suspecting hereditary disease which of the following DNA repair mechanism is defective in Meera?

ANucleotide excision repair
BHomologous recombination
CMismatch repair
DBase excision repair
Biochemistry
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