title: [Pedigree study of pathological myopia].
abstract: 90 pedigrees including 1822 individuals were investigated and analyzed to find out the genetic mode of pathological myopia in Chinese population. 169 screened nuclear pedigrees from the total were divided into two groups according to mating mode, Affected * Normal or Normal * Normal. Simple segregation analysis on A * N and N * N pedigrees was performed respectively. The results showed that A * N pedigrees fit the autosomal dominant inheritance, with segregation ratio 0.6033 and sporadic proportion 13.8%, while N * N pedigrees fit autosomal recessive inheritance, with segregation ratio 0.235245 and sporadic proportion 16.3%, although autosomal dominant inheritance could not be rejected. In complex segregation analysis,SAGE-REGD software was used to fit several genetic model, including Mendelian inheritance (major gene, dominant, recessive, codominant) and non-Mendelian inheritance (non-transmitted, environment, general), and at last all Mendelian inheritances including major gene, dominant, recessive, codominant inheritance were accepted, while codominant inheritance with minimus AIC was best fitted. Our study manifests that pathological myopia in Chinese population fits autosomal dominant and autosomal recessive inheritance with certain sporadic proportion, which demonstrates the high genetic heterogeneity of pathological myopia.
authors.affiliation: Department of Ophthalmology, E&ENT Hospital, Fudan University, Shanghai 200031, China.
authors.forename: Zhi-Qiang
authors.initials: ZQ
authors.lastname: Yu
authors.forename: Chao-Wei
authors.initials: CW
authors.lastname: Fu
authors.forename: Fu-Min
authors.initials: FM
authors.lastname: Shen
authors.forename: Ren-Yuan
authors.initials: RY
authors.lastname: Chu
mesh_terms: D020090:Chromosome Segregation; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D010375:Pedigree