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基因检测结合Bayes分析在诊断脆性X综合征中的应用 被引量:1

APPLICATION OF St14 (DXS52) AND BAYES'ANALYSIS TO Fra (x) SYNDROME
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摘要 应用X染色体长臂末端St14-1(DXS52)多态探针对一个Fra(X)家系进行限制性片断长度多态(RFLPs)分析,在分析的12名成员中,该探针显示了良好的多态性,与Fra(X)位点的重组率为14.3%。通过RFLPs检测结合Bayes分析,新确定2例携带者,2例风险提高,3人排除携带者,为女性成员的生育提供了再发风险依据。 A high polymorphic Xq28 DNA probe St14 (DXS52) was used in restrict fragment length Polymorphism ( RFLP) analysis in a large Fra (X)family, in which 12 individuals showed polymorphism in the locus. A recombination between Fra (X) site and St14 was estimated about 14.3%. Based on the RFLP and Bayes analysis, we could ascertain the carrier status in 7 Possible carriers, in whom, 2 were carriers, 2 raised risk from 25% up to 45.25% and 3 had risk less than 10%.
出处 《山东医科大学学报》 1994年第1期20-22,共3页 Acta Academiae Medicinae Shandong
关键词 脆性X综合征 诊断 RFLP探针 Fragile X syndrome Diagnosis RFLP St14-1 probe
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  • 2何美娟,杨晓林,金润铭,杨爱德,费洪宝,王申五.脆性X综合征快速基因诊断方法的研究[J].中华儿科杂志,1996,34(5):315-318. 被引量:1
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