Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy.
- VernacularTitle:八个杜氏肌营养不良症家系的基因检测及产前诊断
- Author:
Yu LI
1
;
Jianfang ZHANG
;
Ying XU
;
Fenfen GUO
;
Hui XU
;
Feng YAN
;
Juxia REN
;
Detang WANG
;
Biliang CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Female; Fetal Diseases; diagnosis; genetics; Genetic Testing; Humans; Molecular Sequence Data; Muscular Dystrophy, Duchenne; diagnosis; embryology; genetics; Pedigree; Point Mutation; Pregnancy; Prenatal Diagnosis; Sequence Deletion; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(3):363-366
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).
METHODSDenaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.
RESULTSAmong the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.
CONCLUSIONCombined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.
