A study of dystrophin gene analysis for the patients with progressive muscular dystrophy in Minamikyusyuu National Hospital and a carrier status diagnosis in two families 国立療養所南九州病院における進行性筋ジストロフィー患児の遺伝子解析と保因者診断を施行した2家系
A study of dystrophin gene analysis for the patients with progressive muscular dystrophy in Minamikyusyuu National Hospital and a carrier status diagnosis in two families
Progressive muscular dystrophy is a X-linked recessive disease and the clinical course is very severe. Therefore，dystrophin gene analysis and carrier status diagnosis are important. The method of multiplex PCR was introduced in this study. Eighteen subjects showed dystrophin gene deletion out of 28 subjects who were administered in Minamikyushuu National Hospital. The regions of deletion tended to gather around exon 43-52，and 72.2% of deletion was detected in these area. Gene analysis of 10 subjects who didn't show dystrophin gene deletion were not examined about point mutation. The carrier status diagnosis was detected by the methods of PCR-RFLP (restriction fragment length polymorphism) and PCR-VNTR (variable number of tandem repeat) for 2 families. The targeted 2 subjects did not show carrier status，but this result was not perfect because of high possibility of genomic translocation which originated from giant size of dystrophin gene. For this reason，we carried out 5 analysis for more correct diagnosis，and the procedurs were simple. This carrier status diagnosis was the first report in Kagoshima prefecture.
医歯学総合研究科博士論文(医学) ; 学位取得日: 平成12年2月18日