HSF4 基因突变导致常染色体显性遗传核性白内障 ［摘要］ 目的 鉴定一个延续 5 代常染色体显性遗传核性白内障家系的致病基因。方法 根据已知先天性白内障致病基因在染色体上的定位,选择了 D16S539 分子标记,对该家系进行连锁分析,通过基因测序鉴定致病基因。 结果 该 69 名家系成员中有 16 例患有先天性核性白内障,致病基因定位于 16q21-q22,并在候选基因 HSF4 外显子 3 检测到一新的突变杂合子 134456G→A,该突变导致 112E 的同义突变，而在家系正常成员中则未检测到该突变。 结论 该家系核性白内障表型很可能系由 HSF4 基因134456G→A 突变所致，且此突变尚未见报道。 ［关键词］ HSF4；基因突变；先天性白内障 Autosomal dominant congenital nuclear cataract caused by a novel mutation in the HSF4 gene ［Abstract］ Objective To identify the gene mutation causing autosomal dominant congenital nuclear cataract in a five-generation family. Methods According to gene mutation of special known loci in chromosome,linkage analysis was carried out with the D16S539 molecular and sequencing were used to detect the potential mutation in the candidate gene HSF4. Results Sixteen of the 69 individuals in the pedigree had congenital mutation of 134456 G→A in exon 3 of HSF4 gene was found in patients,but not in the normal member at family. Conclusion Mutation 134456 was firstly found in the Chinese patient with autosomal dominant congenital nuclear cataract,and it might be the genetic aspect of the cataract in this five-generation family. ［Key words］ HSF4;gene mutation;congenital cataract 先天性白内障是造成儿童失明和视力损害的重要原因，此外还有许多儿童因本病导致不可逆的弱视，经白内障摘除联合人工晶体植入手术后仍不能提高视力。先天性白内障根据晶状体混浊部位、形态和程度不同分为前极白内障、后极白内障、绕核白内障、核性白内障、点状白内障、膜性白内障等；其中以绕核白内障和核性白内障较常见。绕核性白内障为常染色体显性遗传；混浊位于透明晶状体核周围的层间，因此又称板层白内障。有时在...
