在一个巴基斯坦家庭中发现常染色体隐性先天性白内障的一个新基因座。
A new locus for autosomal recessive congenital cataract identified in a Pakistani family.
作者信息
Kaul Haiba, Riazuddin S Amer, Yasmeen Afshan, Mohsin Sadia, Khan Mohsin, Nasir Idrees A, Khan Shaheen N, Husnain Tayyab, Akram Javed, 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 Feb 16;16:240-5.
PURPOSE
To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.
METHODS
All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated.
RESULTS
The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at theta=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108.
CONCLUSIONS
We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 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遗传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和医学检查。采集血样并提取DNA。使用多态性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，并计算优势对数（LOD）分数。
结果
临床记录和眼科检查表明，所有受影响个体均患有核性白内障。分别使用标记D7S630、D7S657和D7S515在θ=0时获得的最大LOD分数为5.01、4.38和4.17。精细定位缩小了关键区间，并表明在一个27.78厘摩（27.96兆碱基）区间内的标记位于标记D7S660和D7S799两侧，这两个标记在PKCC108家族中与疾病表型共分离。
结论
我们在一个巴基斯坦近亲家庭中确定了一个新的常染色体隐性遗传性先天性白内障基因座，定位于染色体7q21.11-q31.1。
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