The Isoenzyme Hexosaminidase a (HEXA), Composed of Subunits α and β

question 242

Multiple Choice

The isoenzyme hexosaminidase A (HEXA) , composed of subunits α and β, breaks down molecules containing terminal N-acetyl hexosamines.Tay-Sachs disease is caused by a recessively inherited mutation in the gene coding for the α subunit, which is the subunit that hydrolyzes the lipid GM2 ganglioside.Accumulation of this lipid in the brain leads to progressive deterioration of the nervous system and death, usually by age 4.A child born homozygous for the loss-of-function α subunit allele nevertheless does not develop Tay-Sachs disease.Sequence analysis of the β subunit alleles reveals that one allele has a mutation that makes it able to hydrolyze GM2 ganglioside.This is a _______-of-function mutation, which is most likely _______.

• A) gain; dominant
• B) gain; recessive
• C) loss; dominant
• D) loss; recessive
• E) loss; intermediately dominant

Grasp the recognition and reporting of revenue on the financial statements.

Identify the various structures of the kidney and their functions.

Understand the process of blood filtration within the kidney.

Describe the path of urine formation and flow within the urinary system.