Padma T, Ayyagari R, Murty J S, Basti S, Fletcher T, Rao G N, Kaiser-Kupfer M, Hejtmancik J F
National Eye Institute, Bethesda, MD 20892, USA.
Am J Hum Genet. 1995 Oct;57(4):840-5.
Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Different loci for hereditary congenital cataracts have been mapped to chromosomes 1, 2, 16, and 17q24. We report linkage of a gene causing a unique form of autosomal dominant zonular cataracts with Y-sutural opacities to chromosome 17q11-12 in a three-generation family exhibiting a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM. This interval is bounded by the markers D17S799 and D17S798, a region that would encompass a number of candidate genes including that coding for beta A3/A1-crystallin.
先天性白内障是一组形态学和遗传学上异质性的疾病，是儿童失明的主要原因。遗传性先天性白内障的不同基因座已被定位到染色体1、2、16和17q24。我们报告了在一个三代家族中，一种导致独特形式的常染色体显性带状白内障伴Y缝混浊的基因与染色体17q11 - 12连锁，在D17S805处的最大lod值为3.9。多点分析给出了1个lod的置信区间为17厘摩。该区间由标记D17S799和D17S798界定，该区域将包含许多候选基因，包括编码βA3/A1 - 晶体蛋白的基因。
