Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction.
- Author:
Wen HUANG
1
;
Cheng ZHANG
;
You-mei XIE
;
Song-lin CHEN
;
Wei-xi ZHANG
;
Xiao-li YAO
;
Ying ZENG
;
Xi-lin LU
Author Information
- Publication Type:Journal Article
- MeSH: Exons; genetics; Female; Gene Deletion; Heterozygote; Humans; Introns; genetics; Male; Microsatellite Repeats; genetics; Muscular Dystrophy, Duchenne; diagnosis; genetics; Pedigree; Polymerase Chain Reaction; methods
- From: Chinese Journal of Medical Genetics 2007;24(1):72-75
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the female carriers from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy (DMD) familial members for prenatal or preimplantation genetic diagnosis.
METHODSUsing method of PCR to five microsatellite markers (located in 5' terminus and intron 44, 45, 49, 50), analysing of the short tandem repeat sequence polymorphism with the genescan and binding with the quantitative polymerase chain reaction, we detected the DMD carriers from 1 intron and exon -deletion family and 1 intron-deletion family.
RESULTSThe STR-50 genotype of II 2 in family 5 was 245/245, so II3 is DMD gene carrier. The STR-45 genotype of II6 and II8 were del/172, III19 was del/178, so they were all DMD gene carriers.
CONCLUSIONThe STR haploid linkage analysis combined with quantitative polymerase chain reaction is accurate and efficient to detect the female carriers from the intron and/or exon-deletion DMD familial members.
