Butt Tariq, Yao Wenliang, Kaul Haiba, Xiaodong Jiao, Gradstein Libe, Zhang Yan, Husnain Tayyab, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Mol Vis. 2007 Sep 10;13:1635-40.
To identify the disease locus for autosomal recessive congenital cataracts in two consanguineous Pakistani families.
Two Pakistani families were ascertained, ophthalmologic examination including slit lamp biomicroscopy was performed on all members, blood samples were collected and DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two-point logarithm of odds (LOD) scores were calculated using the LINKAGE program package.
All the affected individuals of family PKCC009 show bilateral membranous cataract, whereas the affected individuals of family PKCC039 show bilateral posterior sub-capsular cataract. Other ocular abnormalities include corneal opacities, microcornea and nystagmus in the affected individuals of PKCC009. Maximum two point LOD scores were obtained with D1S186 (4.14 at theta = 0), D1S432 (4.01 at theta = 0), D1S2892 (4.11 at theta = 0), and D1S2797 (4.07 at theta = 0) for family PKCC009 and with D1S496 (4.73 at theta = 0), D1S2892 (4.34 at theta = 0), D1S3721 (4.83 at theta = 0), and D1S2797 (4.32 at theta = 0) for family PKCC039. The common linked region, 20.76 cM (20.80 Mb), is flanked by markers D1S2729 and D1S2890 and co-segregates with the disease in both families, placing the disease locus on chromosome 1p34.3-p32.2.
Linkage analysis of autosomal recessive cataracts in two consanguineous Pakistani families localizes a novel locus for autosomal recessive congenital cataract on chromosome 1p.
在两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位点。
确定了两个巴基斯坦家庭，对所有家庭成员进行了包括裂隙灯显微镜检查在内的眼科检查，采集血样并提取DNA。使用382个多态性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。使用LINKAGE程序包计算两点对数优势（LOD）分数。
PKCC009家庭的所有患病个体均表现为双侧膜性白内障，而PKCC039家庭的患病个体表现为双侧后囊下白内障。PKCC009家庭的患病个体的其他眼部异常包括角膜混浊、小角膜和眼球震颤。PKCC009家庭在D1S186（θ=0时LOD值为4.14）、D1S432（θ=0时LOD值为4.01）、D1S2892（θ=0时LOD值为4.11）和D1S2797（θ=0时LOD值为4.07）处获得最大两点LOD分数，PKCC039家庭在D1S496（θ=0时LOD值为4.73）、D1S2892（θ=0时LOD值为4.34）、D1S3721（θ=0时LOD值为4.83）和D1S2797（θ=0时LOD值为4.32）处获得最大两点LOD分数。共同的连锁区域为20.76厘摩（20.80兆碱基），两侧为标记D1S2729和D1S2890，且在两个家庭中均与疾病共分离，将疾病位点定位在染色体1p34.3-p32.2上。
对两个巴基斯坦近亲家庭的常染色体隐性遗传性白内障进行连锁分析，将一个新的常染色体隐性遗传性先天性白内障位点定位在染色体1p上。
