缝隙连接蛋白α8（GJA8）基因突变会导致常染色体隐性白内障。
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
作者信息
Ponnam Surya Prakash G, Ramesha Kekunnaya, Tejwani Sushma, Ramamurthy Balasubramanya, Kannabiran Chitra
机构信息
Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Road No.2, Banjara Hills, Hyderabad 500 034, India.
出版信息
J Med Genet. 2007 Jul;44(7):e85. doi: 10.1136/jmg.2007.050138.
Abstract
BACKGROUND
GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.
OBJECTIVE
To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.
METHODS
Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.
RESULTS
A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.
CONCLUSIONS
These results confirm involvement of GJA8 in autosomal recessive cataract.
摘要
背景
GJA8基因编码连接蛋白50，这是一种晶状体中的间隙连接蛋白。在常染色体显性白内障家族中已报道了GJA8基因的突变。
目的
鉴定一个常染色体隐性遗传先天性白内障家族中的致病基因。
方法
对8个候选基因进行筛查，以寻找患病和未患病家族成员以及正常无关对照中的致病改变。
结果
发现在连接蛋白50的第203密码子处有一个单碱基插入导致移码，该突变在家族中与疾病共分离。
结论
这些结果证实GJA8基因与常染色体隐性白内障有关。
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2
3
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