[Genetic epidemiology study of pathological myopia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Jun;17(3):178-80.
[Article in Chinese]

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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Gene Frequency
  • Humans
  • Male
  • Models, Genetic
  • Myopia / genetics*