【摘要】 目的　对上海市眼耳鼻喉科医院病理性近视眼患者 6 2个家系的遗传方式进行研究 ,探讨可能的遗传模式。方法　用 SEGRANB软件进行简单分离分析 ,计算确认概率 π,并在此基础上计算分离比 p和散发概率 x,用 SAGE- REGD软件进行复合分离分析 ,探讨可能的遗传模式和致病基因概率。结果　婚配类型为 N*N的家系表现为常染色体隐性遗传 ,A*N婚配类型则可能为隐性遗传模式 (不能排除显性遗传模式 ) ,两种婚配类型均存在一定的散发病例 ,其散发病例比例分别为 6 5 .72 % ,35 .14%。 SAGE-REGD软件分析可能的遗传模式为隐性遗传模式 ,基因频率为 0 .147385。结论　病理性近视眼主要为常染色体隐性遗传 ,部分可能表现为常染色体显性遗传 ,伴有一定的散发病例 ,基因频率为 0 .147385更多还原

【Abstract】 Objective To explore the genetic epidemiology of pathological myopia (PM), including hereditary and genetic model.Methods The simple segregation analysis was done by SEGRANB. The values of segregation ratio p and the proportion of sporadic cases x were estimated. The complex segregation analysis was performed using SAGE REGD. The genetic model and gene frequency were estimated. The 62 pedigrees with PM were random samples from hospital patients. Results By simple segregation analysis, the genetic pattern of N*N is autosomal recessive and the frequency of sporadic cases is approximately 65.72%. The genetic pattern of A*N may be autosomal recessive (but autosomal dominant cannot be excluded), the frequency of sporadic cases is approximately 35.14%. By complex segregation analysis, the genetic model of PM is autosomal recessive and the gene frequency is 0 147385. Conclusion PM is compatible with autosomal recessive inheritance (autosomal dominant not excluded ), the sporadic cases are existent and the gene frequency is 0.147385.更多还原