FUT1基因c.948C>A纯合变异导致一例类孟买血型的血清学及分子生物学分析  

Serological and molecular biological analysis of an individual with para-Bombay blood group due to homozygous c.948 C>A variant of FUT1 gene

作　　者：马春娅 罗圆圆 杨鑫 于洋 汪德清 Ma Chunya;Luo Yuanyuan;Yang Xin;Yu Yang;Wang Deqing(Department of Blood Transfusion Medicine,the First Medical Center of the Chinese People’s Liberation Army General Hospital,Beijing 100853,China)

机构地区：[1]中国人民解放军总医院第一医学中心输血医学科,北京100853

出　　处：《中华医学遗传学杂志》2021年第5期499-502,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例类孟买血型的血清学特征、分子生物学及遗传学特点。方法应用血型血清学方法检测红细胞和唾液的A、B、H抗原;用Sanger测序技术检测先证者及家系成员的ABO和FUT1基因序列,通过家系调查分析该血型的发生机制及遗传学特点。结果先证者ABO血型正反定型不一致,红细胞上未检出A、B、H抗原,唾液中存在B抗原和H抗原,意外抗体筛查实验阳性。基因测序显示先证者ABO基因型为ABO*B.01/ABO*O.01.04,FUT1基因c.948C>A纯合变异(p.Tyr316Ter)。结论发现1例类孟买血型新变异,为FUT1基因编码区c.948C>A错义变异,致其无法编码有活性的H抗原转移酶所致。Objective To study the serological,molecular and genetic characteristics of an individual with para-Bombay blood group.Methods Serological method was used to detect the presence of A,B,H antigens in red blood cells and saliva,and Sanger sequencing was used to analyze the FUT1 sequence of the proband and her family members.Genetic mechanism of the blood group was analyzed by pedigree analysis.Results Forward and reverse typing of the ABO blood group were inconsistent for the proband.A,B and H antigens were not found on erythrocytes,B and H antigens were found in saliva,in addition with unexpected antibodies.The proband was found to havea genotype of ABO*B.01/ABO*O.01.04 caused by homozygous variant of c.948C>A(p.Tyr316Ter)of the FUT1gene.Conclusion A novel para-Bombay blood group was identified,which was due to the missense variant of c.948C>A in the coding region of the FUT1 gene,which has probably resulted in inability to synthesis active H antigen transferase.

关 键 词：类孟买血型 基因测序 家系调查 

分 类 号：R446.6[医药卫生—诊断学]