Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
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DOI：
10.1002/humu.1156
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发表时间：
2001-01-01
期刊：
影响因子：
3.9
通讯作者：
Horstmann, R D
中科院分区：
文献类型：
--
作者：
Hamelmann, C;Amedofu, G K;Horstmann, R D
对来自西非加纳的365例明显无关的重度非综合征感音神经性听力障碍患者的连接蛋白26基因（GJB2）突变进行了研究。在发现的121条突变染色体中，110条携带了先前描述的R143W突变。共鉴定出6个新突变：L79P、V178A、R184Q、A197S、I203K和L214P，其中I203K基于二核苷酸交换，R184Q似乎占主导地位。与世界其他地区相比，在加纳发现的GJB2变异往往包含较少的无意义和移码突变，更多的突变位于分子的c端一半。
Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q, A197S, I203K, and L214P, were identified, whereby I203K was based on a dinucleotide exchange and R184Q appeared to be dominant. The GJB2 variants found in Ghana tend to comprise less nonsense and frameshift mutations and more mutations located in the C-terminal half of the molecule than the variants found in other parts of the world.