Zhang Kunlian, Lin Fengqiu, Li Xiaofeng, Zhang Xu, Li Jianping
Blood Center of Liaoning Province, Liaoning Provincial Key Laboratory for Blood Safety, Shenyang, Liaoning 110044, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):1007-1011. doi: 10.3760/cma.j.cn511374-20201029-00760.
To study rare para-Bombay blood type Bm and to investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.
ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing.
The rare para-Bombay blood type Bm was identified in the proband, with ABOB.01/ABOO.01.01 genotype. Two variants of FUT1 gene, c.508dupT and c.787A>C, were found in the proband. The cloning sequencing revealed that the two variants were on different alleles, and the haplotype of FUT1 gene was h/h. Both of the two variants were predicted to cause inactivation of the enzyme, which is consistent with the result of serological techniques.
Two new alleles of FUT1 gene (h and h), which were associated with para-Bombay phenotype, were identified in the Chinese pedigree.
研究罕见的副孟买血型Bm，并调查一个中国家系中副孟买表型的分子遗传基础。
采用血清学方法确定先证者及其家系的ABO和H表型。通过聚合酶链反应-序列特异性引物（PCR-SSP）分析ABO基因型。通过聚合酶链反应和扩增片段的直接测序分析家系中α-1,2岩藻糖基转移酶（FUT1）基因的完整编码区。通过克隆测序分析FUT1基因的单倍型。
在先证者中鉴定出罕见的副孟买血型Bm，基因型为ABOB.01/ABOO.01.01。在先证者中发现了FUT1基因的两个变异体，c.508dupT和c.787A>C。克隆测序显示这两个变异体位于不同的等位基因上，FUT1基因的单倍型为h/h。预测这两个变异体均会导致酶失活，这与血清学技术的结果一致。
在中国家系中鉴定出两个与副孟买表型相关的FUT1基因新等位基因（h和h）。
