Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus.
- Author:
Yao-qin GONG
1
;
Jiang-xia LI
;
Qi-ji LIU
;
Bing-xi CHEN
;
Chen-hong GUO
;
Gui-min GAO
Author Information
- Publication Type:Journal Article
- MeSH: Abnormalities, Multiple; genetics; pathology; Chromosome Mapping; methods; Chromosomes, Human, Pair 11; genetics; Eye Diseases; pathology; Family Health; Female; Genetic Predisposition to Disease; genetics; Homozygote; Humans; Male; Microsatellite Repeats; Osteogenesis Imperfecta; pathology; Pedigree; Syndrome
- From: Chinese Journal of Medical Genetics 2003;20(1):53-55
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
METHODSPolymerase chain reaction-single sequence length polymorphism was used to genotype the family members from 8 families with osteoporosis-pseudoglioma syndrome(OPS) for 14 polymorphic loci within candidate region. The OPS candidate region was narrowed by searching for homozygous region in affected.
RESULTSThe OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.
CONCLUSIONHomozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.
