一个与常染色体隐性先天性白内障相关的新基因座定位于3号染色体长臂。
Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.
作者信息
Sabir Namerah, Riazuddin S Amer, Butt Tariq, 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 the Punjab, Lahore, Pakistan.
出版信息
Mol Vis. 2010 Dec 8;16:2634-8.
PURPOSE
To localize the disease interval for autosomal recessive congenital cataracts in a consanguineous Pakistani family.
METHODS
All affected individuals underwent detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated.
RESULTS
Clinical records and ophthalmological examinations suggested that affected individuals have bilateral congenital cataracts. Genome-wide linkage analysis localized the critical interval to chromosome 3q with a maximum LOD score of 3.87 at θ=0; with marker D3S3609. Haplotype analyses refined the critical interval to a 23.39 cM (18.01 Mb) interval on chromosome 3q, flanked by D3S1614 proximally and D3S1262, distally.
CONCLUSIONS
Here, we report a new locus for autosomal recessive congenital cataract localized to chromosome 3q in a consanguineous Pakistani family.
目的
在一个近亲结婚的巴基斯坦家庭中定位常染色体隐性遗传性先天性白内障的致病区间。
方法
所有患病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患病和未患病家庭成员的基因组DNA进行全基因组扫描，并计算优势对数（LOD）分数。
结果
临床记录和眼科检查表明，患病个体患有双侧先天性白内障。全基因组连锁分析将关键区间定位到3号染色体长臂，在θ=0时，标记为D3S3609的最大LOD分数为3.87。单倍型分析将关键区间细化为3号染色体长臂上一个23.39厘摩（18.01兆碱基）的区间，近端侧翼为D3S1614，远端侧翼为D3S1262。
结论
在此，我们报告了一个近亲结婚的巴基斯坦家庭中，常染色体隐性遗传性先天性白内障的一个新致病位点，定位于3号染色体长臂。
Zotero 插件