Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad 45600, Pakistan.
Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands.
Genes (Basel). 2014 Mar 11;5(1):176-95. doi: 10.3390/genes5010176.
The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease. RDs are the most frequent cause of inherited blindness worldwide. To date there is no comprehensive genetic overview of different RDs in Pakistan. In this review, genetic data of syndromic and non-syndromic RD families from Pakistan has been collected. Out of the 132 genes known to be involved in non-syndromic RD, 35 different genes have been reported to be mutated in families of Pakistani origin. In the Pakistani RD families 90% of the mutations causing non-syndromic RD and all mutations causing syndromic forms of the disease have not been reported in other populations. Based on the current inventory of all Pakistani RD-associated gene defects, a cost-efficient allele-specific analysis of 11 RD-associated variants is proposed, which may capture up to 35% of the genetic causes of retinal dystrophy in Pakistan.
巴基斯坦常见的近亲结婚导致常染色体隐性遗传疾病频繁发生，包括视网膜营养不良（RD）。在许多研究中，已经证明同基因定位对于常染色体隐性遗传疾病的易感基因定位是成功的。RD 是全世界遗传性失明的最常见原因。迄今为止，巴基斯坦还没有对不同 RD 的全面遗传概述。在这篇综述中，收集了来自巴基斯坦的综合征性和非综合征性 RD 家族的遗传数据。在已知与非综合征性 RD 相关的 132 个基因中，有 35 个不同的基因已在巴基斯坦血统的家族中报告发生突变。在巴基斯坦 RD 家族中，导致非综合征性 RD 的 90%的突变以及导致综合征性疾病的所有突变在其他人群中均未报道过。基于目前所有与巴基斯坦 RD 相关的基因缺陷清单，提出了一种经济高效的 11 个 RD 相关变异的等位基因特异性分析，该分析可能捕获巴基斯坦 RD 遗传病因的 35%。
