常染色体显性遗传性先天性白内障与人类α晶状体蛋白基因CRYAA中的错义突变相关。
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
作者信息
Litt M, Kramer P, LaMorticella D M, Murphey W, Lovrien E W, Weleber R G
机构信息
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA.
出版信息
Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471.
Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.
先天性白内障是一种常见的严重眼部异常，常导致婴儿失明。所有病例中至少三分之一为家族性；常染色体显性先天性白内障（ADCC）似乎是西方世界最常见的家族形式。我们已将ADCC-2家族中的一个ADCC基因定位到21号染色体q22.3区，靠近α-晶状体蛋白基因CRYAA。通过对CRYAA编码区进行测序，我们发现一个错义突变R116C与该家族的ADCC相关。
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