title: [Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
abstract: OBJECTIVE
  To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
  
  
  METHODS
  Polymerase 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.
  
  
  RESULTS
  The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136.
  
  
  CONCLUSIONS
  Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.
authors.affiliation: Department of Medical Genetics, Medical School of Shandong University, Jinan, PR China. gongyaoqin@yahoo.com
authors.forename: Yao-qin
authors.initials: YQ
authors.lastname: Gong
authors.forename: Jiang-xia
authors.initials: JX
authors.lastname: Li
authors.forename: Qi-ji
authors.initials: QJ
authors.lastname: Liu
authors.forename: Bing-xi
authors.initials: BX
authors.lastname: Chen
authors.forename: Chen-hong
authors.initials: CH
authors.lastname: Guo
authors.forename: Gui-min
authors.initials: GM
authors.lastname: Gao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping / Q000379:methods*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005128:Eye Diseases / Q000473:pathology*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010013:Osteogenesis Imperfecta / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome