位于13号染色体上的显性“小带粉状”白内障新基因座。
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
作者信息
Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A
机构信息
Department of Molecular Genetics, Institute of Ophthalmology, London.
出版信息
Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468.
Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant "zonular pulverulent" cataract (CZP) to chromosome 13. To map the CZP locus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z [Zmax] = 4.06; maximum recombination frequency [theta max] = 0) and D13S1236 (Zmax = 5.75, theta max = 0). Multipoint analysis gave Zmax = 6.62 (theta max = 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46.
遗传性白内障是一种临床和遗传上具有异质性的疾病，最常表现为先天性常染色体显性性状。在此，我们报告一个新的显性“板层粉状”白内障（CZP）基因座与13号染色体的连锁关系。为了定位CZP基因座，我们在一个五代英国家系中使用微卫星标记进行了分子遗传连锁分析。在排除了八个已知的常染色体显性白内障基因座和几个候选基因后，我们获得了标记D13S175（最大LOD值[Zmax]=4.06；最大重组频率[θmax]=0）和D13S1236（Zmax = 5.75，θmax = 0）的显著阳性LOD分数（Z）。多点分析在标记D13S175处得到Zmax = 6.62（θmax = 0）。单倍型数据表明，CZP可能位于13号染色体的着丝粒区域，令人感兴趣的是，它靠近晶状体连接蛋白46的基因。
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