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.


CONCLUSIONS
PM is compatible with autosomal recessive inheritance (autosomal dominant not excluded ), the sporadic cases are existent and the gene frequency is 0.147385.
Chu
R
R
Department of Ophthalmology, E & ENT Hospital, Shanghai Medical University, Shanghai, 200031 P. R. China. fmshen@shmu.edu.cn
Ni
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P
Ni
M
M
Shen
F
F
D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009216:Myopia / Q000235:genetics*