A rare p phenotype caused by a 26-bp deletion in α 1,4-galactosyltransferase gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To delineate serological features and genetic basis for a rare p phenotype of P1Pk blood group system found in a Chinese individual.</p><p><b>METHODS</b>Serological assaying was carried out for a proband with unexpected antibody found in his serum using specific antibodies and panel cells. Coding regions and flanking introns of α 1,4-galactosyltransferase gene (A4GALT) associated with the p phenotype were screened with polymerase chain reaction and DNA sequencing.</p><p><b>RESULTS</b>A rare p phenotype of the P1Pk blood group system has been identified with red blood cells from the proband, whose serum contained anti-Tja antibody which can agglutinate and hemolyze with other common red blood cells. Other members of the proband's family were all normal with P1 or P2 phenotype. DNA sequencing has identified in the proband a homozygous 26 bp deletion at position 972 to 997 of the A4GALT gene. The deletion has caused a shift of the reading frame, resulting in a variant polypeptide chain with additional 83 amino acid residues compared with the wild-type protein. Other family members were either heterozygous for above deletion or non-deleted.</p><p><b>CONCLUSION</b>A 26 bp deletion at position 972 to 997 of the A4GALT gene has been identified in a Chinese individual with p phenotype.</p>