Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey C T, Dallapiccola B
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
Biochem Mol Biol Int. 1993 Feb;29(2):291-7.
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.
利用聚合酶链反应方案分析3'基因内p(CTG)多态性，对强直性肌营养不良（DM）肌肉和正常对照中肌强直蛋白激酶（MT-PK）基因的表达进行了研究。未受影响的个体表现出双等位基因表达，而在DM肌肉中仅转录野生型等位基因。我们的研究结果支持了该疾病发病机制中的基因剂量效应。
