纯合性定位在骨质疏松-假性神经胶质瘤综合征基因座精细定位中的应用
[Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
作者信息
Gong Yao-qin, Li Jiang-xia, Liu Qi-ji, Chen Bing-xi, Guo Chen-hong, Gao Gui-min
机构信息
Department of Medical Genetics, Medical School of Shandong University, Jinan, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):53-5.
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.
目的
评估纯合子定位在罕见常染色体隐性疾病相关基因精细定位中的作用。
方法
采用聚合酶链反应-单序列长度多态性方法，对8个患有骨质疏松-假性神经胶质瘤综合征（OPS）家庭的家庭成员在候选区域内的14个多态性位点进行基因分型。通过在患者中寻找纯合区域来缩小OPS候选区域。
结果
OPS候选区域缩小至D11S1296和D11S4136之间1厘摩的区间。
结论
纯合子定位是对罕见常染色体隐性疾病相关基因进行定位和缩小候选区域的有效方法。
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