The identification of a (CGG)(6)AGG insertion within the CGG repeat of the FMR1 gene in Asians
The identification of a (CGG)(6)AGG insertion within the CGG repeat of the FMR1 gene in Asians
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DOI：
10.1007/s004390050450
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发表时间：
1997-06-01
期刊：
影响因子：
5.3
通讯作者：
Scott, CR
中科院分区：
文献类型：
--
作者：
Chen, SH;Schoof, JM;Scott, CR
我们评估了亚洲人群FMR1基因中CGG重复序列的结构，发现最常见的重复序列大小为29和30，少数群体为36个重复序列。我们分离并测序了包含36个重复序列的DNA，发现其基本序列为(CGG)(9)AGG(CGG)(9)AGG-(CGG)(6)AGG(CGG)(9)，并带有(CGG)(6)AGG插入，命名为9A9A6A9。在144条亚洲染色体中，有11条(8%)含有该插入序列。在群体中观察到6种不同的碱基序列变异：9A9A6A2A9、9A9A6A11、9A9A16、9A9A15、8A9A6A6A9和11A6A6A9。除1条染色体外，其余染色体均为DXS548/FRAXAC1：194/D单倍型，提示6A插入序列来源于单个祖先等位基因。我们没有观察到高加索人或美洲原住民的FMR1基因插入。(CGG)(6)AGG插入可能是亚洲人独有的。
We have evaluated the structure of the CGG repeat within the FMR1 gene of an Asian population and found the most common size of the repeat to be 29 and 30 with a minor population of 36 repeats. We have isolated and sequenced DNA containing the 36 repeats and found the basis sequence to be (CGG)(9)AGG(CGG)(9)AGG-(CGG)(6)AGG(CGG)(9); with a (CGG)(6))AGG insertion, designated as 9A9A6A9. Of 144 Asian chromosomes, 11 (8%) had sequences with this insertion. Six different variations of the basic sequence were observed in the population: 9A9A6A2A9, 9A9A6A11, 9A9A16, 9A9A15, 8A9A6A6A9, and 11A6A6A9. All but one of the chromosomes with the insertion had the haplotype of DXS548/FRAXAC1: 194/D suggesting that the sequences with the 6A insertion arose from a single ancestral allele. We have not observed the insertion in the FMR1 gene of Caucasians or Native Americans. The (CGG)(6)AGG insertion may be unique to Asians.