A novel FUT1 allele was identified in a Chinese individual with para‐Bombay phenotype

Abstract

Background:The para-Bombay phenotype is characterised by H-deficient or H partially deficient red blood cells (RBCs) in individuals who secrete ABH antigens in their saliva. Samples from an individual whose RBCs had an apparent para-Bombay phenotype and his family members were investigated and a novel FUT1 allele was identified. Materials and Methods: RBCs' phenotype was characterised by standard serologic technique. Genomic DNA was sequenced with primers that amplified the coding sequence of FUT1 and FUT2, respectively. Routine ABO genotyping analysis was performed. Haplotypes of FUT1 were identified by TOPO cloning sequencing. Recombination expression vectors of FUT1 mutation alleles were constructed and transfected into COS-7 cells. The α-(1,2)-fucosyltransferase activity of expression protein was determined.

The summary of FUT1 and FUT2 genotyping analysis in Chinese para‐Bombay individuals including additional nine probands from Guangzhou in China

“…The 17 FUT1 alleles are h1 (547delAG, Arg183Arg fs*86), h2 (880delTT, Phe294Cysfs*40), h3 (C658T, Arg220Cys), h4 (C35T, Ala12Val; A980C, Asn327Thr), h5 (T460C, Tyr154His), h6 (C522A, Phe174Leu), h7 (G649T, Val217Phe), h8 (C35T, Ala12Val; G423A, Trp141X), h9 (C424T, Arg142Trp; only submitted to GenBank in 2011, Accession Number .1), h328A (G328A, Ala110Thr), h293T (C293T, Thr98Met), h659A (G659A, Arg220His), h586T (C586T, Gln196X), h682G (A682G, Met228Val), h35T,682G (C35T, Ala12Val; A682G, Met228Val), h366_398del33 (366_398del33, Pro122Pro fs*234), and h235C (G235C, Gly79Arg). The data show that FUT1 mutations are diversely distributed in Chinese para‐Bombay individuals with continuous novel variations identified, but the four FUT1 alleles h1 , h2 , h3 , and h4 are prevalent with frequency of 51.3%, 28.0%, 9.1%, and 3.4%, respectively, which sum up to approximately more than 90% of all allele counts. The other 13 kinds of FUT1 alleles are only identified in few Chinese probands with para‐Bombay phenotype (Table ).…”

“…In the Chinese population, the para‐Bombay phenotype is more common than Bombay phenotype at a rate of 1 per 8000 in Taiwan, 1 per 15,620 in Hong Kong, and 1 per 8539 in Fujian province located in mainland China . To date, more than 40 FUT1 silencing or weakening mutations have been described (see Web Resource) that diversely distributed in various populations with increasing novel variations identified . FUT2 polymorphism analysis in different populations indicates the ethnic‐specific distributed alleles, for example, the none‐secretor allele Se 428 is common in Caucasians and Africans, the weak secretor allele Se 357,385 is specific to Asians, and a fusion gene ( Se fus ) is unique in Japanese.…”

Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion

“…Different molecular lesions can cause Bombay phenotype including missense mutations, silent mutations and frameshift deletions. To date, more than 40 silencing or weakening FUT1 mutations have been reported . In contrast to FUT1, mutations of FUT2 are quite widespread and about 20% of Caucasian population are homozygous for non‐functional alleles of FUT2 .…”

Two Novel α1,2-Fucosyltransferase Alleles in an H-Deficient Phenotype Individual

“…The FUT1 and FUT2 genes share high homology. The FUT2 gene encodes α-fucose glycosyltransferase as well as the secretion of α-fucose radical enzyme activity and H antigens in the body fluid [11]. The incidence of the H-deficient phenotype has been reported to be 1 in 8,000 in the Taiwanese and Fujian populations [5,12] and approximately 1-2 in 300,000 in the Japanese population [13].…”