常染色体显性遗传性先天性白内障一家系致病基因的初步定位

目的 初步定位常染色体显性遗传性先天性白内障(ADCC)一家系的致病基因。方法 收集ADCC一家系资料,在已知先天性白内障致病基因和位点附近,选择合适的短串联重复序列多态性标记(STRP),对ADCC一家系进行连锁分析,使用Mlink软件采用对数优势记分法(LOD)计算LOD值。结果 在STRP中,D17S805、D17S1294及D17S1293与致病基因位点连锁的最大LOD值分别为2．03、2．49及2．22(重组率0=0)。结论 该ADCC家系的致病基因初步定位在第17对染色体上;CRYBA1基因为候选基因。（中华眼科杂志,2004,40：824-827)

Gene mapping of a pedigree with autosomal dominant congenital cataract

OBJECTIVE: To map the gene for autosomal dominant congenital cataract (ADCC) in a Chinese family. METHODS: Blood samples were collected from 14 members of this family. Linkage analysis was carried out using short tandem repeat polymorphism (STRP) in close proximity to genes and loci previously reported involving in human cataract. Two-point linkage analysis lod scores were calculated. RESULTS: The mutation gene locus in this pedigree was mapped to 17q, an 11.78-cM interval between markers D17S1288 and D17S933. Significant positive maximum LOD scores (Z(max)) at recombination fraction (theta) 0, were obtained for markers D17S805 (Z(max) = 2.03), D17S1294 (Z(max) = 2.49), and D17S1293 (Z(max) = 2.22). CONCLUSIONS: The mutation gene in this ADCC pedigree is located at chromosome 17q. This is the first report of an autosomal dominant congenital nuclear cataracts located at this locus. This result will be helpful for further studying of the pathogenesis of cataract.