一例Vel血型基因杂合缺失个体的家系调查及基因分析  

Pedigree investigation and genetic analysis of a case with Vei heterozygous deletion mutation

作　　者：刘太香[1] 刘衍春[1] 马玲[1] 赵芳[1] 张若洋[1] 史丽莉[1] 

机构地区：[1]江苏省血液中心输血研究室,南京210042

出　　处：《中华医学遗传学杂志》2017年第6期888-890,共3页Chinese Journal of Medical Genetics

摘　　要：目的鉴定1例Vel血型基因SMIM1的个体突变情况，并对其家系进行调查和基因分析，以期找到罕见的纯合缺失即Vel阴性（Vel-）的突变个体。方法根据Vel-产生的分子机制分别设计可特异扩增野生型和缺失突变SMIM1序列的引物，采用序列特异性引物PCR检测样本的基因型，通过DNA测序分析确证基因型，并开展家系调查和基因分析。结果PCRSSP和DNA测序结果显示，先证者Vel血型基因SMIM1C．64-80连续17个核苷酸发生了杂合缺失突变。家系分析显示先证者的父亲与其基因型相同，为杂合缺失突变，母亲和姐姐SMIM1无缺失突变。在其家庭成员中未发现纯合缺失突变个体。结论结合PCR—SSP和DNA测序分析，鉴定了1例SMIM1 c．64-80杂合缺失的个体。先证者的杂合缺失突变遗传自其父亲。Objective To analyze an individual with SMIM1 c. 64_ 80 heterozygous deletional mutation and his family members. Methods Based on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and e. 64_80del allele were designed. PCR-sequence specific primer （PCR-SSP） and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis. Results PCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 e. 64_ 80del allele. Pedigree investigation showed that his father had the same mutation, while his mother and elder sister were of wide type. No individual with homozygous c. 64_80del allele was found. Conclusion PCR-SSP and DNA sequencing confirmed that the proband was heterozygous for the c. 64_80del mutation. The mutation inherits form his father.

关 键 词：Vel血型 SMIM1基因 杂合缺失 家系调查 

分 类 号：R446.6[医药卫生—诊断学]