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一个BMD和二个DMD家系的RFLP连锁分析和缺失分析

RFLP Linkage Analysis and deletion analysis in one family with BMD and two families with DMD.
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摘要 用DXS28、J-Bir、DXS164和DXS84探针对一个BMD和两个DMD家系进行RFLP连锁分析,在DMD家系中,JBir/BamH Ⅰ和pERT87-1Msp Ⅰ杂交组合均能提供信息,表明该家系中先证者之妹是DMD致病基因携带者。在一个BMD家系中发现有pERT87-1的缺失,并进行了缺失分析。 One family with BMD and two families with DMD were Studied with the probes DXS28, J-Bir, DXS164 and DXS84.All the J-Bir/BamH I and pE-RTS7-1/Msp I were informative in the family with DMD and the pERT87-1 deletion was identified in the families with BMD. The carriers of DMD pathogenic gene were detected in the three families by RELP linkage analysis and deletion analysis. The mechanism of the deletion was also discussed.
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 1991年第4期194-197,共4页 Chinese Journal of Nervous and Mental Diseases
基金 江苏省科委的资助
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