Identification of a novel FUT1 allele with two mutations in a Chinese para‐Bombay individual

Abstract

Two novel FUT1 mutations have been identified in the proband's FUT1 gene. The insertion mutation in the FUT1 that caused a shift of the open reading frame and formed a termination codon early at Amino Acid Position 334 may be the main reason for H deficiency in this case.

Genotyping of the rare Para-Bombay blood group in southern Thailand

“…The genotype is rare even in Chinese para-Bombay populations. 20 In a Chinese para-Bombay individual, novel FUT1 mutations have been identified in the proband's FUT1 gene, homozygous for c.958insG, c.961G > A, c.814A>G and c.755G>C. 21 , 22 Furthermore, an H +w individual was homozygous for a base triplet deletion (c.396_398delCCC), leading to a single amino acid (p.Pro133del) in the fucosyltransferase 1. 23 In addition, in the Polish population, the DNA sequence analysis of the coding region of the FUT1 revealed a different and previously unpublished mutation in each of the three donors: 1) homozygous for c.958G>A, which encodes a change of p.Gly320Arg; 2) homozygosity for c.1A>C, which encodes a change of the p.Met1Leu but, more importantly, disrupts the translation-initiating start codon for the FUT1 coding region, and; 3), homozygous for c.323G>T, a change that predicts the p.Arg108Leu.…”