Xu Xian-guo, Hong Xiao-zhen, Liu Ying, Ying Yan-ling, Tao Su-dan, He Yan-min, Zhu Fa-ming, Lv Hang-jun, Yan Li-xing
Institute of Transfusion Medicine, Blood Center of Zhejiang Province; Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang, 310006 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):250-4. doi: 10.3760/cma.j.issn.1003-9406.2010.0.003.
To investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.
ABO and H phenotypes of the proband and his pedigree were characterized by serological techniques. The exons 6 and 7 of the ABO gene and full coding region of alpha-1,2-fucosyltransferase (FUT1) gene of the pedigree were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotypes of compound heterozygote of the FUT1 gene were also analyzed by cloning sequencing.
Three para-Bombay phenotypes were identified in nine family members by serological technology. Three heterozygous variants (35C/T, 235G/C and 682A/G) were found in FUT1 gene of the proband, and the hapotype of FUT1 gene was h(235C)/h(35T+628G)according to the cloning sequencing. The alleles h(235C)and h(35T+628G) caused G79R, A12V and M228V amino acid substitutions in alpha-1,2-fucosyltransferase, respectively.
A novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.
研究一个中国家系中类孟买血型的分子遗传基础。
采用血清学技术对先证者及其家系成员的ABO和H血型进行鉴定。通过聚合酶链反应和对扩增片段的直接测序，分析该家系ABO基因的第6和第7外显子以及α-1,2-岩藻糖基转移酶（FUT1）基因的完整编码区。还通过克隆测序分析FUT1基因复合杂合子的单倍型。
通过血清学技术在9名家系成员中鉴定出3例类孟买血型。在先证者的FUT1基因中发现3个杂合变异（35C/T、235G/C和682A/G），根据克隆测序结果，FUT1基因的单倍型为h(235C)/h(35T+628G)。等位基因h(235C)和h(35T+628G)分别导致α-1,2-岩藻糖基转移酶中G79R、A12V和M228V氨基酸替换。
在中国家系中发现了一个与类孟买血型相关的FUT1基因新突变235G>C。
