一个与常染色体隐性先天性白内障相关的新基因座定位到8号染色体短臂。
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.
作者信息
Sabir Namerah, Riazuddin S Amer, Kaul Haiba, Iqbal Farheena, Nasir Idrees A, Zafar Ahmad U, Qazi Zaheeruddin A, Butt Nadeem H, Khan Shaheen N, Husnain Tayyab, Hejtmancik J Fielding, Riazuddin Sheikh
机构信息
National Centre of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.
出版信息
Mol Vis. 2010 Dec 30;16:2911-5.
PURPOSE
To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.
METHODS
All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosomal recessive model of inheritance.
RESULTS
Ophthalmic examination suggested that affected individuals have bilateral cataracts. Linkage analysis localized the critical interval to chromosome 8p with LOD scores of 3.19, and 3.08 at θ=0, obtained with markers D8S549 and D8S550, respectively. Haplotype analyses refined the critical interval to 37.92 cM (16.28 Mb) region, flanked by markers, D8S277 proximally and D8S1734 distally.
CONCLUSIONS
Here, we report a new locus for autosomal recessive congenital cataract mapped to chromosome 8p in a consanguineous Pakistani family.
目的
在一个巴基斯坦近亲家庭中确定常染色体隐性先天性白内障的疾病基因座。
方法
所有受影响个体均接受了详细的眼科检查。采集血样并提取基因组DNA。使用荧光标记的微卫星标记对受影响和未受影响家庭成员的基因组DNA进行全基因组扫描。在完全显性的常染色体隐性遗传模式下计算优势对数（LOD）分数。
结果
眼科检查表明，受影响个体患有双侧白内障。连锁分析将关键区间定位到8号染色体短臂，分别使用标记D8S549和D8S550在θ=0时获得的LOD分数为3.19和3.08。单倍型分析将关键区间细化到37.92厘摩（16.28兆碱基）区域，近端由标记D8S277界定，远端由标记D8S1734界定。
结论
在此，我们报告了一个巴基斯坦近亲家庭中定位到8号染色体短臂的常染色体隐性先天性白内障新基因座。
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