CAJ | 학술논문

目的：定位一个常染色体显性遗传性先天性全白内障家系的致病基因。方法收集一个常染色体显性遗传性先天性全白内障家系的资料，在已知先天性白内障致病基因和位点附近，选择9个微卫星标记，对此家系进行连锁分析，使用Mlink软件采用对数优势记分法（ LOD）计算LOD值。结果未发现所选微卫星位点与该家系疾病表型共分离，LOD值均为负值。致病基因与已知的先天性白内障7个候选基因不存在连锁关系。结论该家系的致病基因有待于进一步研究。
목적：정위일개상염색체현성유전성선천성전백내장가계적치병기인。방법수집일개상염색체현성유전성선천성전백내장가계적자료，재이지선천성백내장치병기인화위점부근，선택9개미위성표기，대차가계진행련쇄분석，사용Mlink연건채용대수우세기분법（ LOD）계산LOD치。결과미발현소선미위성위점여해가계질병표형공분리，LOD치균위부치。치병기인여이지적선천성백내장7개후선기인불존재련쇄관계。결론해가계적치병기인유대우진일보연구。
Objective To map the gene for autosomal dominant congenital total cataract family disease genes .Methods Blood sam-ples were collected.Linkage analysis was carried out using 9 microsatellite markers in close proximity to genes and loci previously reported involving in human cataract .Two-point linkage analysis lod scores were calculated through Mlink .Results All selected microsatellite markers were not cosegregated with the phenotype .LOD scores showed negative values .No linkage relation was found between the patho-genic gene and 7 ADCC candidate genes.Conclusion Further study should be carried out for the screen of another gene or locus associated to ADCC.