摘要
Duchenne型肌营养不良症(DMD)至今缺乏有效的诊治方法,DMD基因cDNA克隆和分析揭示基因部分缺失是该病发生的主要原因,作者应用DMD基因cDNA探针CT56a,CT56b和DNA探针754-11,采用分子杂交技术,对3个DMD家系20名成员进行分子缺失筛检和限制性片段长度多态现象连锁分析,发现1例患者及其母有DMD基因部分缺失,10例女性亲属为携带者,认为该法可用于DMD携带者检出和产前诊断,有效地预防有病胎儿的出生。
Duchenne muscular dystrophy (DMD ) is an X- linked recessive lethal disorder . No effective treatment is available up to the present. The cloning of the complete 14 kb human DMD cDNA and the deletion analysis revealed that submicroscopic deletion of part or all of the DMD genc is the major cause of the disease . Here , with cDNA probes Cf56a , Cf56b and DXA probe 754 -11 , we used direct moleculat deletion screening and restricrion fragment lenghth polymorphism (RFLP )linkage analysis , studied 3 DMD families of 20 members . Deletions of part of DMD loci were detected in one sporadic patient and in his mother . Carner status were comfirmed in 10 female relatives . This showed that carrier detection and prenatal diagnosis are possible by DNA analysis .
出处
《第四军医大学学报》
1991年第3期196-199,共4页
Journal of the Fourth Military Medical University
基金
西京医院1988-1989年专题科研基金 No.88-62
关键词
肌营养不良症
产前诊断
基因诊断
muscular dystrophy, chromosome deletion
polymorphism
heterozygote detection
prenatal diagnosis
