Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia E I, Garzozi H J, Kastner D L, Goldman B, Frydman M
Department of Ophthalmology, Sapir Medical Center, Kfar Saba, Israel.
Isr Med Assoc J. 2001 Aug;3(8):559-62.
Fourteen loci have been associated with autosomal dominant cataract, but only one with the recessive form of the disease.
To find the chromosomal location of a gene causing autosomal recessive cataract in three inbred Arab families.
A single nucleotide polymorphism-based genome-wide search, with the Effvmetrix GeneChip HuSNP genotyping array, was performed on a pooled DNA sample from six affected family members in a search for regions showing homozygosity. Using conventional microsatellite markers, regions of homozygosity were further analyzed in all the families.
A region on chromosome 3p spanning 43 megabases showed homozygosity with 13 consecutive SNPs. Three microsatellite markers from this region yielded lod scores > 3.00. A maximal two-point lod of 4.83 was obtained with the marker D3S1298 at theta = 0.004. Haplotype analysis placed the disease gene in a 20 Mb interval between D3S1768 and D3S2409.
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
已有14个基因座与常染色体显性白内障相关，但只有1个与该疾病的隐性形式相关。
在三个近亲阿拉伯家庭中寻找导致常染色体隐性白内障的基因的染色体定位。
使用安捷伦基因芯片HuSNP基因分型阵列，对来自六个患病家庭成员的混合DNA样本进行基于单核苷酸多态性的全基因组搜索，以寻找显示纯合性的区域。使用传统微卫星标记，在所有家庭中对纯合性区域进行进一步分析。
3号染色体短臂上一个跨度为43兆碱基的区域显示出与13个连续单核苷酸多态性的纯合性。来自该区域的三个微卫星标记产生的对数优势分数>3.00。在θ=0.004时，标记D3S1298获得的最大两点对数优势为4.83。单倍型分析将疾病基因定位在D3S1768和D3S2409之间20兆碱基的区间内。
导致常染色体隐性白内障的基因定位于3号染色体短臂。
