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Biochemistry · Glycoproteins: blood group biochemistry
Sample itemA woman whose red cells type as group O has serum that agglutinates group O red cells from other donors. Her daughter, fathered by a group A man, is group AB. Which defect best explains the mother's phenotype?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Inability to add fucose to the precursor chain, so H antigen is absent and A and B antigens cannot form
ABO antigens are built on the H antigen, formed when fucosyltransferase (FUT1) adds fucose to the precursor oligosaccharide. In the Bombay phenotype (hh) no H antigen is made, so red cells type as O even when ABO genes such as B are inherited, and the serum contains anti-H that agglutinates normal group O cells. Such a woman can pass on a B gene, explaining an AB child.
Option by option
A. Mutation in the RHD gene
RHD mutations alter Rh D status and do not affect ABO antigens.
B. Inability to add fucose to the precursor chain, so H antigen is absent and A and B antigens cannot form (correct)
Correct. Lack of H antigen blocks A and B expression, and the serum makes anti-H.
C. Absence of N-acetylgalactosaminyltransferase, so A antigen cannot be formed
Lack of the A transferase gives group B or O, and the serum would not react with ordinary group O cells.
D. Absence of galactosyltransferase only, so B antigen cannot be formed
Lack of the B transferase gives group A or O, and the serum would not react with ordinary group O cells.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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