应用全外显子组测序技术鉴定1个白化病家系致病基因HPS1

发布时间：2017-12-27 18:26

本文关键词：应用全外显子组测序技术鉴定1个白化病家系致病基因HPS1　出处：《检验医学》2017年04期 　论文类型：期刊论文

【摘要】：目的采用全外显子组测序鉴定1个常染色体隐性遗传白化病家系患者的致病基因,探讨其发病机制。方法采集先证者及其家系成员外周血并提取其基因组DNA,对先证者进行全基因外显子组测序,并结合序列变异生物信息学分析方法,鉴定其致病基因,利用Sanger测序对基因突变位点验证。结果全外显子组测序结果显示,先证者HPS1基因存在由c.1276_1279dupGGAG(p.Asp427fs)移码突变和c.398+5GA剪切位点变异组成的复合杂合突变,而其表型正常的父亲为c.1276_1279dupGGAG(p.Asp427fs)杂合突变,表型正常的母亲为c.398+5GA杂合突变。结论该白化病先证者由HPS1基因c.1276_1279dupGGAG和c.398+5GA复合杂合突变导致,此患者被诊断为Hermansky-Pudlak综合征1型。外显子测序技术可以快速准确地筛查白化病候选基因,并明确其具体临床亚型,有利于临床医师积极干预患者潜在并发症以及改善患者生存质量。
[Abstract]:The purpose of exomes sequencing of 1 autosomal recessive albino gene of autosomal dominant familial patients with all, investigate its pathogenesis. Methods the peripheral blood of the proband and its family members was collected and their genomic DNA was extracted. The exon group of the proband was sequenced, and the pathogenic gene was identified by sequence mutation bioinformatics analysis. The gene mutation site was verified by Sanger sequencing. The whole exome sequencing results showed that the proband HPS1 gene by c.1276_1279dupGGAG (p.Asp427fs) mutation and c.398+5GA composition shift shear mutation compound heterozygous mutation, and the phenotype of normal father c.1276_1279dupGGAG (p.Asp427fs) heterozygous mutation, phenotypically normal mothers c.398+5GA heterozygous mutation. Conclusion the albinism precursor was caused by complex heterozygous mutation of HPS1 gene c.1276_1279dupGGAG and c.398+5GA, and the patient was diagnosed as type 1 of Hermansky-Pudlak syndrome. Exon sequencing technology can quickly and accurately screen candidate genes of albinism, and identify its specific clinical subtypes, which is beneficial for clinicians to actively intervene in potential complications and improve their quality of life.
【作者单位】：上海交通大学医学院附属上海儿童医学中心检验科;
【分类号】：R440;R596
【正文快照】： 白化病是由于黑色素合成或转运相关基因突变所引起的具有相同或相似临床症状的一类遗传病的总称,为一大类异质性很强的隐性遗传的色素缺乏症,全球发病率约1/17 000[1]。白化病的主要临床表现为皮肤、毛发、虹膜等部分或完全缺乏色素,伴视网膜异常。白化病患者的视网膜病变可导

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