[一例Vel杂合缺失突变病例的家系调查与基因分析]
[Pedigree investigation and genetic analysis of a case with Vel heterozygous deletion mutation].
作者信息
Liu Taixiang, Liu Yanchun, Ma Ling, Zhao Fang, Zhang Ruoyang, Shi Lili
机构信息
Jiangsu Province Blood Center, Nanjing, Jiangsu, 210042, China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):888-890. doi: 10.3760/cma.j.issn.1003-9406.2017.06.023.
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 c.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 c.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.
目的
分析一名携带SMIM1基因c.64_80杂合缺失突变的个体及其家庭成员。
方法
基于Vel阴性血型的分子基础，设计针对SMIM1野生型等位基因和c.64_80del等位基因的PCR引物。采用PCR序列特异性引物（PCR-SSP）和桑格测序法确定所有受试者的基因型。通过系谱分析研究Vel血型系统的遗传方式。
结果
PCR-SSP和DNA测序表明，先证者为SMIM1基因c.64_80del等位基因的杂合子。系谱调查显示，其父亲有相同突变，而母亲和姐姐为野生型。未发现携带c.64_80del等位基因纯合子的个体。
结论
PCR-SSP和DNA测序证实先证者为c.64_80del突变的杂合子。该突变遗传自其父亲。
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