[A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].
OBJECTIVE
Two 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.


METHODS
In 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.


RESULTS
The 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.


CONCLUSIONS
There might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.
Zhao
Xiao-ping
XP
Department of Neurology, Changhai Hospital, Second Military Medical University, Shanghai, 200433 P.R. China. xiaopingzhao1@263.net
Xie
Hui-jun
HJ
Zheng
Hui-ming
HM
Yu
Zhi-liang
ZL
Cui
Yi
Y
Ding
Su-ju
SJ
Ren
Da-ming
DM
Tang
Guo-mei
GM
D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
C433227:CNBP protein, human; C585517:DMPK protein, human; D016601:RNA-Binding Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases