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目的对1例姨表近亲结婚的遗传性凝血因子Ⅶ(coagulation factorⅦ,FⅦ)缺陷症家系进行表型与基因型分析。方法检测血浆中凝血酶原时间(prothrombin time,PT)、FⅦ促凝活性(FⅦprocoagulant activity,FⅦ:C)及其它凝血指标以明确诊断;用DNA直接测序法对先证者及家庭成员FⅦ基因的全部外显子及其侧翼、启动子区进行分析,寻找基因突变,用反向测序证实所发现的突变。结果先证者的PT和FⅦ:C明显异常,分别为35.1s和3%;其父亲、母亲、大儿子和小儿子的PT稍延长,FⅦ:C明显降低。先证者FⅦ基因外显子8存在11348C→T纯合突变导致Arg304Trp;其父亲为该突变位点的杂合子,其母亲、大儿子和小儿子均为Arg304Trp杂合突变和Arg353Gln杂合多态性。结论先证者纯合突变Arg304Trp遗传自近亲结婚且具有相同杂合突变位点的父母。Arg353Gln多态性可能不是影响该家系成员血浆FⅦ:C水平的主要因素。
Objective To analyze the phenotype and genotype of a familial family with familial coagulation factor Ⅶ (FⅦ) deficiency. Methods Plasma prothrombin time (PT), FⅦprocoagulant activity (FⅦ: C) and other coagulation parameters were determined to confirm the diagnosis. The direct sequencing method was used to detect the FⅦ gene All exons and their flanks and promoter regions were analyzed for gene mutations and confirmed by reverse sequencing. Results The proband’s PT and F Ⅶ: C were significantly abnormal, with 35.1s and 3%, respectively. The PT, father, mother, eldest son, and younger son had slightly longer PT and FⅦ: C decreased significantly. The homozygous mutation of 11348C → T in exon 8 of proband FⅦ gene resulted in Arg304Trp; the father was the heterozygote of the mutation site, and the mothers, eldest son and younger son were all Arg304Trp heterozygous mutation and Arg353Gln heterozygous polymorphism Sex. Conclusions Progenitor homozygous mutation Arg304Trp was inherited from parents who were married by relatives and had the same heterozygous mutation sites. Arg353Gln polymorphism may not be the main factor affecting plasma FⅦ: C levels in this pedigree.