病理性近视的基因位点筛查  

Genome-wide screening of pathological myopia

作　　者：于志强[1] 黄传新[2] 申宗侯[2] 黄薇 胡诞宁[4] 褚仁远[1] 

机构地区：[1]复旦大学附属眼耳鼻喉科医院,上海200031 [2]复旦大学上海医学院生化教研室,上海200032 [3]国家人类基因组南方研究中心,上海201203 [4]美国纽约医学院附属眼耳医院

出　　处：《眼科研究》2006年第4期429-432,共4页Chinese Ophthalmic Research

摘　　要：目的通过基因组扫描和家系连锁分析,对已知病理性近视相关位点进行筛查。方法收集符合常染色体显性遗传的病理性近视家系,选取330对微卫星标记进行基因组扫描,在显性遗传模式、基因频率0·0133和外显率100%的条件下,进行二点连锁分析和多点连锁分析。结果连锁分析在9个家系中均未发现连锁位点。第12号染色体上LODs最大0·773459,最小-8·121303,第18号染色体上LODs最大0·559933,最小-8·936928,排除了与已知病理性近视基因位点MYP2和MYP3连锁。结论我国病理性近视基因位点与国外报道不同,存在遗传异质性。病理性近视遗传模式可能不是单一的单基因常染色体显性遗传。Objective To screen the known loci of. pathological myopia in Chinese pedigrees by a genome-wide screen and linkage analysis. Methods Nine families consented to participate our study after knowing the fact. DNAs were available for 177 individuals from venous blood. 330 pairs of highly heterozygous microsatellite marker primers were selected for a genomewide screen. Genescan 2.0 and Genetyper 1. 1 softwares were used to identify the genotype of every individual. Two-point linkage was calculated by Linkage package in an autosomal dominant mode with full penetrance at gene frequency of 0. 013 3. Multipoint LOD scores were calculated by use of Genehunter program. Results No evidence of significant linkage was found on 22 pairs of autosomes in all the nine families by two-point and muhipoint linkage analysis. The maximum LOD score on chromosome 12 was 0. 773 459 ,while the minimus -8. 121 303. The maximum LOD score on chromosome 18 was 0. 559 933 ,while the minimus - 8. 936 928. The possibility of linkage could be eliminated with the known pathological loci MYP2 and MYP3. Conclusion The virulence gene locus in Chinese population is different from the reports in Western country. The genetic mode of pathological myopia may not he only monogene autosomal dominant inheritance. This outcome also demonstrates the high genetic heterogeneity of pathological myopia.

关 键 词：病理性近视 连锁分析 遗传异质性 

分 类 号：R778.11[医药卫生—眼科]