病理性近视眼的遗传流行病学研究

目的 对上海市眼耳鼻喉科医院病理性近视眼患者６２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），两种婚配类型中均在一

Genetic epidemiology study of pathological myopia

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.