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目的研究中国汉族人群ABO血型系统中Bw变异型的分子遗传背景,发现并鉴定一个新的ABO等位基因。方法血型血清学方法鉴定1例ABO血型疑难样本,应用聚合酶链反应、逆转录-聚合酶链反应和DNA序列分析等方法对先证者ABO基因转录调控序列和全编码序列进行突变筛选和检测。结果血清学和家系调查鉴定该样本为Bw表型,对gDNA和cDNA研究发现该样本存在第6外显子278C/T杂合,单倍体分析发现一种新的Bw等位基因,该等位基因与B101相比,差异仅在第6外显子的278C>T错义突变,导致多肽链P93L替换,该突变点位于以前报道的Bw等位基因功能域之外。结论在中国人群中发现一种新的导致Bw变异型的ABO等位基因。
Objective To study the molecular genetic background of Bw mutation in ABO blood group in Chinese Han population and find and identify a new ABO allele. Methods A case of ABO blood group was identified by blood group serological test. The ABO gene transcriptional regulatory sequences and full coding sequences of probands were screened and detected by polymerase chain reaction, reverse transcription polymerase chain reaction and DNA sequence analysis . Results The serological and pedigree investigation identified the Bw phenotype. A glimpse of gDNA and cDNA revealed that the sample contained a 278C / T heterozygosity at exon 6, and a haploid analysis revealed a novel Bw allele. Compared with B101, the difference was only in the 278C> T missense mutation of exon 6, resulting in the replacement of P93L in the polypeptide chain, which was located outside the previously reported Bw allele domain. Conclusion A new ABO allele that causes Bw mutation was found in Chinese population.