Human Genetics Center, School of Public Health, Univ. of Texas HSC, 1200 Herman Pressler Dr., 77030, Houston, TX, USA,
Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16.
The goal of our research is to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). For this purpose we established a cohort of more than 250 independently ascertained families with adRP in the Houston Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Affected members of each family were screened for disease-causing mutations in genes and gene regions that are commonly associated with adRP. By this approach, we detected mutations in 65 % of the families, leaving 85 families that are likely to harbor mutations outside of the "common" regions or in novel genes. Of these, 32 families were tested by several types of next-generation sequencing (NGS), including (a) targeted polymerase chain reaction (PCR) NGS, (b) whole exome NGS, and (c) targeted retinal-capture NGS. We detected mutations in 11 of these families (31 %) bringing the total detected in the adRP cohort to 70 %. Several large families have also been tested for linkage using Afymetrix single nucleotide polymorphism (SNP) arrays.
我们的研究目标是确定导致常染色体显性视网膜色素变性（adRP）的基因和突变。为此，我们在休斯顿遗传性眼病分子诊断实验室建立了一个由 250 多个独立确定的 adRP 家族组成的队列。每个家族的受影响成员都接受了常见与 adRP 相关的基因和基因区域的致病突变筛查。通过这种方法，我们在 65%的家族中检测到了突变，还有 85 个家族可能携带“常见”区域以外或新基因的突变。其中，32 个家族接受了多种类型的下一代测序（NGS）的检测，包括（a）靶向聚合酶链反应（PCR）NGS，（b）全外显子 NGS，和（c）靶向视网膜捕获 NGS。我们在其中 11 个家族（31%）中检测到了突变，使 adRP 队列中总共检测到的突变达到 70%。一些大型家族也使用 Affymetrix 单核苷酸多态性（SNP）芯片进行了连锁分析。
