DNA analysis of a pedigree with Myotonic Dystrophy in Songiang county Shanghai
Objective To make the molecular analysis of a pedigree with myotonic dystrophy (DM) in Songjiang county Shanghai China, and to observe the connection between CTG trinucleotide repeat number and clinical features in a pedigreee with DM. Beckground Previous reports of CTG repeat numbers in a pedigree with DM was less in China. The study showed normal and expanded CTG repeat numbers in a Chinese patients with DM. Methods CTG trinucleotide repeat numbers were analyzed by using Long Expand TM Template PCR system. Results Four of eight clinical patients had expanded DM allele, the other four had no expanded CTG copies. Seven of eight suspicious DM cases had expanded CTG repeat numbers and were therefore genetically diagnosed DM, and an asymptomatic individual was dianosed a doubted DM patient by DNA analysis. High risk of DM in six of seven individuals was ruled out, and a clinical doubted DM individual was ascertained a normal person by molecular analysis. A positive correlation was found between early onset and expanded CTG repeat number in six parent(or grandparent)/child pairs, but in the pair No Ⅱ2/NoⅣ7 CTG repeat numbers were reduced from 3100 in the grandmother to 175 in her grandson and there was no anticipation phenomenon. Discussion it is possible that these patients represent a form of allelic heterogeneity for DM. Conclusion The measurement of CTG repeat number can help to ascertain the diagnosis of DM.
trinucleotide repeat、molecular analysis、myotonic dystrophy、clinical features、Chinese patients、diagnosis of、early onset、form of
8
R5 ;S56
2005-07-07（万方平台首次上网日期，不代表论文的发表时间）
共1页
88
