[一个常染色体显性遗传性先天性白内障家系的基因定位]
[Gene mapping of a pedigree with autosomal dominant congenital cataract].
作者信息
Qi Yan-hua, Jia Hong-yan, Huang Shang-zhi, Lin Hui, Gu Jing-zhi, Su Hong, Zhang Tie-ying, Gao Ya
机构信息
Department of Ophthalmology, the Second Affiliated Hospital, Haerbin Medical University, Haerbin 150086, China.
出版信息
Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):824-7.
OBJECTIVE
To map the gene for autosomal dominant congenital cataract (ADCC) in a Chinese family.
METHODS
Blood samples were collected from 14 members of this family. Linkage analysis was carried out using short tandem repeat polymorphism (STRP) in close proximity to genes and loci previously reported involving in human cataract. Two-point linkage analysis lod scores were calculated.
RESULTS
The mutation gene locus in this pedigree was mapped to 17q, an 11.78-cM interval between markers D17S1288 and D17S933. Significant positive maximum LOD scores (Z(max)) at recombination fraction (theta) 0, were obtained for markers D17S805 (Z(max) = 2.03), D17S1294 (Z(max) = 2.49), and D17S1293 (Z(max) = 2.22).
CONCLUSIONS
The mutation gene in this ADCC pedigree is located at chromosome 17q. This is the first report of an autosomal dominant congenital nuclear cataracts located at this locus. This result will be helpful for further studying of the pathogenesis of cataract.
目的
在中国一个家系中定位常染色体显性遗传性先天性白内障（ADCC）的致病基因。
方法
采集该家系14名成员的血样。利用与先前报道的涉及人类白内障的基因和位点紧密相邻的短串联重复序列多态性（STRP）进行连锁分析。计算两点连锁分析的对数优势分数（lod值）。
结果
该家系中的突变基因位点被定位到17号染色体长臂，位于标记D17S1288和D17S933之间11.78厘摩的区间内。在重组率（θ）为0时，标记D17S805（Z（max）=2.03）、D17S1294（Z（max）=2.49）和D17S1293（Z（max）=2.22）获得了显著的最大正lod值。
结论
该ADCC家系中的突变基因位于17号染色体长臂。这是首次报道位于该位点的常染色体显性遗传性先天性核性白内障。这一结果将有助于进一步研究白内障的发病机制。
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