【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。更多还原

【Abstract】 ObjectiveTo screen the known loci of pathological myopia in Chinese pedigrees by a genome-wide screen and linkage analysis.MethodsNine 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 genome-wide 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 calcu1ated by use of Genehunter program.ResultsNo evidence of significant linkage was found on 22 pairs of autosomes in all the nine families by two-point and multipoint 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.ConclusionThe virulence gene locus in Chinese population is different from the reports in Western country.The genetic mode of pathological myopia may not be only monogene autosomal dominant inheritance.This outcome also demonstrates the high genetic heterogeneity of pathological myopia.更多还原