抗肌萎缩蛋白基因内MP1P位点多态性的银染法检测

Amp-FLP analysis on MPIP site at the 3'untranslated region of dystrophin gene and its application to linkage analysis in gene diagnosis of DMD.

应用银染聚丙烯酰胺凝胶法，对抗肌萎缩蛋白基因３＇非翻译区ＭＰ１Ｐ位点进行了扩增片段长度多态性分析。此位点在中国人中有多态性，共检出３个等位片段，汉族人群中３个等位片段的频率分别为０．１４１、０．７０３、０．１５６，ＰＩＣ为０．４６２；回族人群中的频率分别为０．１８２，０．５９１，０．２２７，ＰＩＣ为０．５６６。此位点与３＇不翻译区的３＇ＣＡ位点存在连锁不平衡性，在连锁分析中可替代３＇ＣＡ作为基因３＇端的遗传标志。

Amp-FLP haplotype linkage analysis is useful in DMD/BMD gene diagnosis.In order to get more information at the 3'end of the dystrophin gene, the polymorphisms of a four nucleotide repeat sequence, MPIP, within the 3'untranslated region was analyzed.The amplified fragments were seperated by polyaerylamide gel electrophoresis and.the gel was silver stained. Three alleles were abserved with the frequences of 0.141, 0.703 and 0. 156 in Han Nationality, and 0.182, 0. 591 and 0.227in Hui Nationality.The PIC were 0. 462and 0. 566 respectively in these two nationalities. The MPIP site is more informative than the 3' CA site and can take the place of the 3' CA site in gene diagnosis.