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目的借助Ion Torrent PGMTM测序平台对1例眼皮肤白化病(oculocutaneous albinism,OCA)患者的家系进行基因诊断分型。方法采用PCR扩增的方法对OCA常见的四个致病基因TYR、P、TYRP1和SLC45A2进行全长扩增(包括内含子和外显子),PCR产物二代测序,在确定致病突变的基础上对家系成员进行综合分析。结果先证者携带TYR基因的双重杂合突变:c.929ins C和c.1199G>T,尽管先证者在P和SLC45A2基因上也发现了纯合突变,但是相应纯合突变在父母基因组中也被发现,而父母均未有临床症状表现,因此确定先证者为OCA1型患者。结论我们在一个白化病核心家系鉴定了1例由TYR基因双重杂合子突变引起的OCA1型白化病,应用二代测序方法可高效准确地为具有高遗传异质性的遗传病开展全面的基因筛查工作。
Objective To analyze the pedigree of a patient with oculocutaneous albinism (OCA) using Ion Torrent PGMTM sequencing platform. Methods PCR amplification was used to amplify the TYR, P, TYRP1 and SLC45A2 genes of common OCA genes (including introns and exons). The PCR products were sequenced for the second generation. After confirming the pathogenic mutation Based on the family members a comprehensive analysis. RESULTS: The probands carried double heterozygous mutations of the TYR gene: c.929ins C and c.1199G> T, although homozygous mutations were also found in the P and SLC45A2 genes by probands, but the corresponding homozygous mutation was in the parental genome Were also found, but none of the parents had any clinical signs of symptoms, thus identifying probands as OCA1-type patients. Conclusions We identified a case of OCA1 albinism caused by a double heterozygous mutation of the TYR gene in a nuclear family of albinism and used a second generation sequencing method to conduct a comprehensive genetic screening of genetic diseases with high genetic heterogeneity efficiently and accurately .