Xu Xian-guo, Hong Xiao-zhen, Liu Ying, Wu Jun-jie, Ma Kai-rong, Zhu Fa-ming, Yan Li-xing
Institute of Transfusion Medicine, Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang, 310006, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):631-4.
To investigate the molecular genetic basis of the Bw variant and identify novel alleles at ABO locus in Chinese Han population.
Serological techniques were performed to characterize erythrocyte phenotype of a proband. Mutations of the ABO gene were screened by polymerase chain reaction, reverse transcription-polymerase chain reaction and DNA sequencing.
The proband was identified as Bw phenotype by serological technology and family study. A novel Bw variant allele was identified in the gDNA and cDNA. The novel allele was observed a missense mutation (278 C to T) at the exon 6 which resulted in an amino acid substitution (P93L) compared with B101 allele. The 278 C to T was the first report mutation position in exon 6 among Bw alleles, so the P93L amino acid substitution was different from others Bw variants which had amino acid substitutions in a conserved functional domain reported previously.
A novel Bw allele (278 C to T) responsible for Bw variant is reported in Chinese population.
研究Bw变异型的分子遗传基础，并在中国汉族人群中鉴定ABO基因座的新等位基因。
采用血清学技术对一名先证者的红细胞表型进行鉴定。通过聚合酶链反应、逆转录-聚合酶链反应和DNA测序筛选ABO基因的突变。
通过血清学技术和家系研究确定先证者为Bw血型表型。在基因组DNA和互补DNA中鉴定出一个新的Bw变异等位基因。与B101等位基因相比，该新等位基因在第6外显子处存在一个错义突变（278 C突变为T），导致氨基酸替换（P93L）。278 C突变为T是Bw等位基因中第6外显子首次报道的突变位置，因此P93L氨基酸替换与先前报道的在保守功能域中发生氨基酸替换的其他Bw变异型不同。
在中国人群中报道了一种导致Bw变异型的新Bw等位基因（278 C突变为T）。
