Analysis of the CTG Trinucleotide Repeat Expansion in Patients with Congenital Myotonic Dystrophy
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Myotonic dystrophy (Dystrophia myotonica, DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3' untranslated region of mRNA encoding a putative serine/threonine protein kinase. (1) We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and 1 paternal transmission) and 27 subjects with normal controls to evaluate their CTG repeat size between DM patients and normal controls, and to examine a correlation between the clinical characteristics of congenital DM (CDM) and CTG repeat expansions. Analysis was on the basis of the Southern blot and polymerase chain reaction (PCR) methods, and by direct sequencing of PCR amplified CTG repeat. Analysis of the intergenerational differences in the CTG repeat size for mother-child pairs showed a positive correlation (y=1.0384x+1265.2,r2=0.311). In addition to the strong parental bias, this group showed genetic anticipation. There was a significant correlation of the CTG repeat expansion with disease severity. The largest CTG repeat expansion (2293 CTG repeats) on average was disclosed to patients with severe CDM, and the smallest (129 CTG repeats), to patients with subclinical DM. The mutant allele of an asymptomatic father in the paternally transmitted pedigree revealed 75 CTG repeats, demonstrating that he was a DM protomutation carrier. (2) We have analyzed the amplification of the CTG repeat of DNAs extracted from skeletal muscles and lymphocytes in five CDM patients. The amplification from skeletal muscles showed an increase of about 1.5-kb to 3.5-kb larger than that from leukocytes in all patients. A patient with severe CDM had an abnormal enlarged and blurred band of 12.4-kb which demonstrated slight somatic cell heterogeneity in different organs.
- 札幌医科大学の論文
- 1997-08-01
札幌医科大学 | 論文
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