一个弱D15型家系研究  

The family investigation of a weak D type 15 donor

作　　者：熊文[1] 秦建江 刘艳[1] 周一炎[1] 邵超鹏[1] 

机构地区：[1]深圳市血液中心输血医学研究所,518035 [2]新疆哈密地区中心血站

出　　处：《中华医学遗传学杂志》2007年第1期35-37,共3页Chinese Journal of Medical Genetics

摘　　要：目的 调查Rh血型D抗原弱表现型（弱D15）等位基因的家系遗传。方法 采用常规血清学方法和PCR技术检测各家系成员Rh D、C、c、E和e抗原表型，间接抗球蛋白实验确认D抗原。依据弱D15型等位基因（RHD845A）序列设计特异性引物，建立序列特异性引物．聚合酶链反应方法（sequence specific primer-polymerase chain reaction，SSP-PCR），检测一个弱D15型先证者的4名家系成员，同时应用双管PCR技术鉴定全部家系成员的RHD基因杂合型。结果在全部4名家系成员中检出弱D15型等位基因；RHD基因杂合型结果显示4名家系成员均为RHD^＋／RHD^＋纯合型。先证者的父母、外甥均有1条正常的RHD基因，为弱D15型等位基因携带者，表现为正常D阳性；先证者和姐姐各携带2条弱D15型等位基因，基因型为RHD845A／RHD845A，形成D抗原弱表现型。结论 先证者为弱D15型等位基因纯合体，弱D15型等位基因为亲代遗传基因，非个体基因变异。Objective To study the genetic feature of weak D type 15 allele（RHD845A） in a Chinese family. Methods Rh D, C, c, E and e phenotypes of 4 members in a weak D type 15 family were tested by serological and polymerase chain reaction （PCR）, D antigen was proven by indirect antiglobulin test. A pair of primers specific for RHD845A were designed, and a sequence specific primer-PCR （PCR-SSP） method was established to detect RHD845A allele in all family members. Subsequently the dual-tube PCR method was used to determine the RHD zygosity of 4 members. Results The RHD845A allele existed in all 4 family members and the RHD zygosity test showed that all members were RHD^＋/RHD^＋ homozygous. The parents and nephew possessed one normal RHD gene as RHD845A allele carriers, which caused RhD positive. The proband and his old-sister took two RHD845A alleles, which caused weak D phenotype. The proband is the weak D type 15 allele homozygous. The weak D type 15 gene is an ancestral allele, but not a mutation.

关 键 词：弱D 等位基因 冢系调查 

分 类 号：R686[医药卫生—骨科学]