%0 English Abstract
%T [Serology and genomic analysis of para-Bombay individuals in a hospital in Hunan Province].
%A Liu FX
%A Qu L
%A Gu L
%J Zhonghua Yu Fang Yi Xue Za Zhi
%V 57
%N 12
%D 2023 Dec 6
%M 38186171
暂无%R 10.3760/cma.j.cn112150-20230606-00435
%X To investigate the serological and genetic characteristics of para-Bombay patients in a hospital in Hunan Province. A retrospective analysis was conducted on the blood type results of 175 439 hospitalized patients born in Hunan Province from the Third Xiangya Hospital, Central South University from 2016 to 2021. Phenotypes of ABO blood group was analyzed by blood group serology, and molecular biological methods were used to analyze the genotype, including ABO genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) gene sequencing. The results showed that 3 cases of Ah and 1 case of Bh were detected. FUT1 sequencing showed that there were 2 cases of h3h3, 1 case of h1h1 and 1 case of h302h1, of which h302 (c.302C>T) was the first discovered mutation. FUT2 sequencing revealed that 4 cases were all Se357Se357. The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the FUT1 gene mutations leading to para-Bombay blood group mainly include h3, h1 and h302, of which h3 mutation is the most common.<BR>本研究旨在探讨湖南省某医院患者类孟买血型的血清学特点和基因特征。回顾性分析中南大学湘雅三医院2016—2021年籍贯为湖南省的175 439例住院患者的ABO血型结果，采用标准血型血清学方法对研究标本进行ABO血型鉴定，以序列特异引物引导的聚合酶链式反应（polymerase chain reaction-sequence specific primers，PCR-SSP）方法进行ABO基因分型及测序，对岩藻糖基转移酶1（fucosyltransferase 1，FUT1）和岩藻糖基转移酶2（fucosyltransferase 2，FUT2）基因进行分析。结果显示，共检出4例类孟买血型，其中3例为Ah，1例为Bh。FUT1基因测序结果显示，2例为h3h3突变，1例为h1h1突变，1例为h302h1突变，其中h302（c.302C>T）为首次新发现的突变。FUT2基因测序结果显示4例均为Se357Se357。家系研究结果表明类孟买血型的遗传方式符合常染色体显性遗传。综上，本研究患者的导致类孟买血型的FUT1基因突变包括h3、h1以及新发现的h302共3种，其中以h3突变最多见。.