首例和第二例无白蛋白血症突变位点的位置。
Location of the mutation site in the first two reported cases of analbuminemia.
机构信息
Research Institute, The Mary Imogene Bassett Hospital (affiliated with Columbia University), Cooperstown, NY 13326, USA.
出版信息
Clin Biochem. 2010 Mar;43(4-5):525-7. doi: 10.1016/j.clinbiochem.2009.12.002. Epub 2009 Dec 16.
OBJECTIVE
To find the mutation causing the first two reported cases of analbuminemia.
DESIGN AND METHODS
DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced.
RESULTS
A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon.
CONCLUSIONS
The data suggest that analbuminemia is the result of widely scattered random mutations.
目的
寻找前两例报道的无白蛋白血症的致病突变。
设计与方法
从固定包埋的肝脏组织块中提取 DNA。扩增并测序白蛋白基因的外显子。
结果
在两个研究对象中均发现 12 号外显子的 C>T 替换，导致精氨酸（aa509）的密码子 CGA 突变为终止密码子 TGA。
结论
数据提示无白蛋白血症是广泛分布的随机突变的结果。
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