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  • Title: [Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
    Author: Gong YQ, Li JX, Liu QJ, Chen BX, Guo CH, Gao GM.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb; 20(1):53-5. PubMed ID: 12579502.
    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. CONCLUSION: Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.
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