HSF4基因突变导致常染色体显性遗传核性白内障
HSF4；基因突变；先天性白内障,,],HSF4；基因突变；先天性白内障,1对象与方法,2结果,3讨论,[参考文献]
HSF4基因突变导致常染色体显性遗传核性白内障 (pdf)[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
HU Zhoujun,LU Yilu，LI Qihuan，et al.Chenzhou Maternity and Child Health Hospital,Chenzhou 423000,China
[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 marker.PCR 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 cataracts.A 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(G→A) 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. ......
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