摘要
目的研究四川地区2例类孟买血型的分子遗传学基础并对1例先证者进行家系分析。方法通过血清学试验初步检测ABO血型和H血型,PCR扩增ABO、FUT1和FUT2基因并直接测序分析,对1例先证者家系进行检测分析。结果血清学结果显示2例先证者的红细胞上缺乏H抗原。2例先证者ABO基因型均为A102/O02,FUT1基因的直接测序结果显示2例先证者的FUT1基因均存在第658位C>T的纯合突变,FUT2基因的分型结果显示2例先证者均为分泌型。基因测序证实2例先证者为类孟买型。对其中1例先证者的家系分析显示,其父母为非类孟买血型,但均为突变基因携带者,即各携带1个第658位C>T突变的FUT1等位基因,而其弟弟为类孟买血型,FUT1基因存在C658T纯合突变。结论 FUT1基因第658位C>T突变,可导致220位精氨酸→半胱氨酸的错义突变,导致H抗原缺乏,可能是四川地区类孟买血型形成的常见分子机制之一。
Objective To study the molecular genetic basis of two cases with Para-Bombay phenotypes in Sichuan province and conduct family study of one proband. Methods Preliminary detection of ABO and H blood type was conducted by serological test. The genes of ABO, FUT1, and FUT2 were amplified by PCR and sequenced directly., and family study on one proband was carried out. Results Serological test revealed that 2 probands′ H antigen lacked on red blood cells and the ABO genotype was all A102/O02. Direct sequencing of FUT1, FUT2 showed that both probands had C to T homozygous mutation at position 658 and were secreting type, i.e. Para-Bombay phenotype. Genealogical analysis on one proband revealed that her parents were not Para-Bombay phenotype, however they both carried one mutation at 658 position on the FUT1 allele(C>T). Her brother exhibited as Para-Bombay phenotype with homozygous C658 T mutation in the FUT1 gene.Conclusion Mutation from C to T at position 658 on the FUT1 gene resulted in arginine to cysteine at amino acid position 220 could lead to the expression deficiency of H antigen, which might be one of the common molecular mechanisms on the formation of Para-Bombay phenotype in Sichuan province.
作者
孔玉洁
徐海霞
田力
刘忠
KONG Yujie;XU Haixia;TIAN Li;LIU Zhong(Institute of Blood Transfusion,Chinese Academy of Medical Sciences and Peking Union Medical College;Key Laboratory of Transfusion Adverse Reactions,Chinese Academy of Medical Sciences)
出处
《中国输血杂志》
CAS
2020年第8期836-839,共4页
Chinese Journal of Blood Transfusion
基金
中国医学科学院医学与健康科技创新工程(2016-I2M-3-024)
中国医学科学院中央级公益性科研院所基本科研业务费专项资金(2018PT32016)
