[Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
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.
Gong
Yao-qin
YQ
Department of Medical Genetics, Medical School of Shandong University, Jinan, PR China. gongyaoqin@yahoo.com
Li
Jiang-xia
JX
Liu
Qi-ji
QJ
Chen
Bing-xi
BX
Guo
Chen-hong
CH
Gao
Gui-min
GM
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