2026-03-08T03:07:25Z https://ir.kagoshima-u.ac.jp/oai

oai:ir.kagoshima-u.ac.jp:00002356 2026-03-03T15:04:08Z 228:230:5181 57:86

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 コクリツ リョウヨウジョ ミナミキュウシュウ ビョウイン ニオケル シンコウセイ キンジストロフィー カンジ ノ イデンシ カイセキ ト ホインシャ シンダン オ シコウ シタ 2カケイ 田中, 主美 タナカ, カズミ Tanaka, Kazumi open access progressive muscular dystrophy multiplex PCR carrier status diagnosis 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 鹿児島大学 カゴシマ ダイガク Kagoshima University 2000 jpn thesis VoR https://doi.org/10.11501/3164968 http://hdl.handle.net/10232/12526 https://ir.kagoshima-u.ac.jp/records/2356 10.11501/3164968 http://dl.ndl.go.jp/info:ndljp/pid/3164968 0368-5063 AN00040104 鹿児島大学医学雑誌 Medical journal of Kagoshima University 51 2-3 27 31 2000-02-18 https://ir.kagoshima-u.ac.jp/record/2356/files/000000350161.pdf application/pdf 5.2 MB 2016-10-27 2000-02-18