IR@PKUHSC  > 北京大学第三临床医学院  > 眼科
学科主题临床医学
Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family
Zhang, Shirong2,3; Liu, Mugen2,3; Dong, Jia Mei1,4; Yin, Ke2,3; Wang, Pengyun2,3,5; Bu, Juan1,4; Li, Jing1,4; Hao, Yan Sheng1,4; Hao, Ping6; Wang, Qing Kenneth2,3,7; Wang, Lejin1,2,3,4
刊名MOLECULAR VISION
2008-10-22
14期:224页:1893-1897
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Ophthalmology
研究领域[WOS]Biochemistry & Molecular Biology ; Ophthalmology
关键词[WOS]CONGENITAL CATARACT ; JUVENILE-ONSET ; MUTATION ; PROTEIN
英文摘要

Purpose: To map a gene responsible for infantile cataract in a large four-generation, non- consanguineous Chinese family.

Methods: Twenty-two family members including 17 cataract patients in the Chinese family were analyzed clinically. All family members were genotyped with 382 microsatellite markers that provide genome-wide coverage every 10 cM. Linkage analysis was performed to identify the chromosomal location of the infantile cataract gene in the family. Candidate genes were studied by direct DNA sequence analysis.

Results: Genome-wide linkage analysis provided evidence for a genetic locus for infantile cataract on chromosome 20p12.2-20p11.23. The maximum LOD score was 5.15 for marker D20S471 at a recombination fraction of 0. Fine mapping defined the cataract gene within a 7.4 Mb interval between markers D20S915 and D20S912. No mutation was detected in potential candidate genes, BFSP1 and CHMP4B.

Conclusions: Our results suggest that there is a new gene for infantile cataract on chromosome 20p12.2-p11.23. Our results suggest that new genes for infantile cataract could be found through further study of candidate genes at the 20q locus, which may provide insights into the pathogenic mechanisms of cataracts.

语种英语
WOS记录号WOS:000263305000001
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55383
专题北京大学第三临床医学院_眼科
作者单位1.Peking Univ, Hosp 3, Beijing 100083, Peoples R China
2.Guiyang Coll Tradit Chinese Med, Guiyang, Peoples R China
3.Shangqiu Eye Hosp, Henan, Peoples R China
4.Peking Univ, Ctr Eye, Dept Pediat Ophthalmol & Strabismus, Beijing 100083, Peoples R China
5.Minist Educ, Coll Life Sci & Technol, Key Lab Mol Biophys, Wuhan, Peoples R China
6.Huazhong Univ Sci & Technol, Ctr Human Genome Res, Wuhan 430074, Peoples R China
7.Cleveland Clin, Lerner Res Inst, Dept Mol Cardiol, Ctr Cardiovasc Genet, Cleveland, OH 44106 USA
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GB/T 7714
Zhang, Shirong,Liu, Mugen,Dong, Jia Mei,et al. Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family[J]. MOLECULAR VISION,2008,14(224):1893-1897.
APA Zhang, Shirong.,Liu, Mugen.,Dong, Jia Mei.,Yin, Ke.,Wang, Pengyun.,...&Wang, Lejin.(2008).Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.MOLECULAR VISION,14(224),1893-1897.
MLA Zhang, Shirong,et al."Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family".MOLECULAR VISION 14.224(2008):1893-1897.
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