[常染色体显性遗传性视网膜色素变性家族中候选基因的筛选]
[Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
作者信息
Teng Yun, Tian Hong, Wang Hui, Hu Xiaofeng, Chen Yan, Yang Zhenrong, Wang Wei
机构信息
Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):164-6.
OBJECTIVE
To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).
METHODS
Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.
RESULTS
A new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.
CONCLUSION
A causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.
目的
确定一个患常染色体显性遗传性视网膜色素变性（ADRP）的五代家系中的致病突变。
方法
提取该家系中4例ADRP患者及4例正常人的基因组DNA，随后采用聚合酶链反应-单链构象多态性联合DNA测序技术，对3个ADRP候选基因的8个外显子进行突变筛查。
结果
在4名患病家族成员中检测到视紫红质基因第1外显子52密码子处有一个新的点突变（TTC突变为TAC），导致酪氨酸被苯丙氨酸替代，而来自同一家系的4名对照个体未检测到该突变。
结论
在一个患ADRP的大型中国家系中鉴定出视紫红质基因的致病突变。本研究证实了ADRP的分子遗传异质性。
Zotero 插件