Avellino角膜营养不良家系致病基因的定位研究

摘要

目的：对收集到的一个常染色体显性遗传性Avellino角膜营养不良家系的致病基因进行初步定位。　　方法：采集家系中所有成员的外周静脉血,从中提取基因组DNA样本。在热点区域内选取微卫星标记进行基因扫描,分别利用LINKAGE软件和CYRILLIC软件进行连锁分析及单体型分析,以确定候选基因所在的染色体区域。　　结果：该Avellino角膜营养不良家系的连锁分析结果在D5 S396和D5 S393这两个微卫星标记处获得最大优势对数计分(LOD)值,Zmax=3.01(θ=0.00)。单体型分析将致病基因定位于微卫星标记D5 S808和D5 S638之间。　　结论：该Avellino角膜营养不良家系的致病基因初步定位于染色体5q上的遗传距离约为11.2厘摩( cM)的一段区域内。%AIM:To point the susceptible gene in Avellino corneal dystrophy family with autosomal dominant inheritance. ●METHODS: Genomic DNA was extracted from the peripheral blood samples of all individuals of the pedigree. Several microsatellite makers were selected for gene scan in the hot regions of mutation. Linkage analysis was carried out using a Linkage software package. The haplotype data were processed using Cyrillic software to define the region of the disease gene. ●RESULTS: ln our pedigree, significant evidence of linkage was obtained at marker D5S396 and D5S393 [LOD score (Z)=3. 01, recombination fraction (θ)=0. 00]. The haplotype analysis of our pedigree was located between the microsatellite markers D5S808 and D5S638. ●CONCLUSION:The pathogenic gene of the Avellino corneal dystrophy pedigree is traced to a 11. 2 cM region in the chromosome 5q.