一例罕见RhD336-1G>A内含子变异的家系分析  

A pedigree analysis of a rare RhD 336-1G>A intron variant

作　　者：王月峰[1] 陈海江[1] 曾艳[1] 史骁梁[1] 张建军[1] Wang Yuefeng;Chen Haijiang;Zeng Yan;Shi Xiaoliang;Zhang Jianjun(Shaoxing Women and Children’s Hospital,Shaoxing,Zhejiang 312000,China)

机构地区：[1]绍兴市妇幼保健院,312000

出　　处：《中华医学遗传学杂志》2021年第8期803-806,共4页Chinese Journal of Medical Genetics

基　　金：绍兴市公益性技术应用研究计划(2018C30039)。

摘　　要：目的鉴定1例RhD基因分型与血清学结果不符的标本,并探讨其分子机制。方法分析该家系两代共8名成员的血清学结果,根据孟德尔遗传定律逐步推导,针对性地对该家系成员进行了RhD基因分型、合子型测定和基因测序。结果先证者及其一表姐有相同的RhD等位基因,均含有336-1G>A内含子变异基因和全缺失型基因。变异基因遗传自其父母中有血缘关系的两人,全缺失型基因来自父母中另一方。RhD基因第2内含子336-1G>A变异导致先证者RhD血清学为阴性而基因分型为阳性。结论该家系中存在罕见的336-1G>A内含子变异基因(RhD*01N.25),其相对于RhD基因为隐性基因,可导致RhD表型阴性。Objective To explore the molecular mechanism of a case where RhD genotyping did not match serological results.Methods The serological results of 8 members from two generations of this family were analyzed.And according to Mendelian law of inheritance,RhD genotyping,zygotic type determination and gene sequencing were performed for the family members.Results The proband and one of her cousins have the same RhD alleles,both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele.The variant alleles are inherited from two of their parents with blood relationship,while the complete-deleted alleles come from the other.336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A,which leads to a negative RhD serology and a positive genotype in the proband.Conclusion There was a rare 336-1G>A intron variant gene(RhD*01N.25)in this family,which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.

关 键 词：336-1G>A 内含子变异 RH-HR血型系统 等位基因 Rh复合物 家系调查 

分 类 号：R394[医药卫生—医学遗传学]