A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion.
- Author:
Xiao-ping ZHAO
1
;
Hui-jun XIE
;
Hui-ming ZHENG
;
Zhi-liang YU
;
Yi CUI
;
Su-ju DING
;
Da-ming REN
;
Guo-mei TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Blotting, Southern; Child; Female; Humans; Male; Microsatellite Repeats; genetics; Middle Aged; Myotonic Dystrophy; genetics; Myotonin-Protein Kinase; Pedigree; Polymerase Chain Reaction; Protein-Serine-Threonine Kinases; genetics; RNA-Binding Proteins; genetics; Trinucleotide Repeats; genetics
- From: Chinese Journal of Medical Genetics 2004;21(5):459-462
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETwo genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM.
METHODSIn twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning.
RESULTSThe numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family.
CONCLUSIONThere might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.
