本文關(guān)鍵詞：應(yīng)用全外顯子組測序技術(shù)鑒定1個白化病家系致病基因HPS1　出處：《檢驗(yàn)醫(yī)學(xué)》2017年04期 　論文類型：期刊論文

  更多相關(guān)文章： HPS基因 白化病 Hermansky-Pudlak綜合征型 全外顯子組測序

【摘要】：目的采用全外顯子組測序鑒定1個常染色體隱性遺傳白化病家系患者的致病基因,探討其發(fā)病機(jī)制。方法采集先證者及其家系成員外周血并提取其基因組DNA,對先證者進(jìn)行全基因外顯子組測序,并結(jié)合序列變異生物信息學(xué)分析方法,鑒定其致病基因,利用Sanger測序?qū)蛲蛔兾稽c(diǎn)驗(yàn)證。結(jié)果全外顯子組測序結(jié)果顯示,先證者HPS1基因存在由c.1276_1279dupGGAG(p.Asp427fs)移碼突變和c.398+5GA剪切位點(diǎn)變異組成的復(fù)合雜合突變,而其表型正常的父親為c.1276_1279dupGGAG(p.Asp427fs)雜合突變,表型正常的母親為c.398+5GA雜合突變。結(jié)論該白化病先證者由HPS1基因c.1276_1279dupGGAG和c.398+5GA復(fù)合雜合突變導(dǎo)致,此患者被診斷為Hermansky-Pudlak綜合征1型。外顯子測序技術(shù)可以快速準(zhǔn)確地篩查白化病候選基因,并明確其具體臨床亞型,有利于臨床醫(yī)師積極干預(yù)患者潛在并發(fā)癥以及改善患者生存質(zhì)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.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心檢驗(yàn)科;
【分類號】：R440;R596
【正文快照】： 白化病是由于黑色素合成或轉(zhuǎn)運(yùn)相關(guān)基因突變所引起的具有相同或相似臨床癥狀的一類遺傳病的總稱,為一大類異質(zhì)性很強(qiáng)的隱性遺傳的色素缺乏癥,全球發(fā)病率約1/17 000[1]。白化病的主要臨床表現(xiàn)為皮膚、毛發(fā)、虹膜等部分或完全缺乏色素,伴視網(wǎng)膜異常。白化病患者的視網(wǎng)膜病變可導(dǎo)

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