Sinha S, Pradhan S, Mittal R D, Mittal B
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.
Indian J Med Res. 1992 Oct;96:297-301.
Polymerase chain reaction (PCR) was used to study the presence of gene deletion (the most prominent type of mutations) in some families afflicted by Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD). The results clearly demonstrate deletion in the central part of the DMD gene in two of the three families studied. This information can be useful for genetic counselling with particular reference to prenatal diagnosis and carrier analysis.
聚合酶链反应(PCR)被用于研究一些患有杜兴氏肌营养不良症/贝克氏肌营养不良症(DMD/BMD)的家庭中基因缺失(最主要的突变类型)的存在情况。结果清楚地表明,在所研究的三个家庭中的两个家庭里,DMD基因的中部存在缺失。该信息对于遗传咨询,尤其是产前诊断和携带者分析可能会很有用。