Analysis of DMD gene mutations in 59 families in northern China
10.3760/cma.j.issn.1009-9158.2009.07.010
- VernacularTitle:中国北方59个假肥大性肌营养不良家系中抗肌萎缩蛋白基因突变分析
- Author:
Qian WANG
;
Donghua CAO
;
Changkun LIN
;
Wanting CUI
;
Hongwei MA
;
Yingyu WU
;
Chunlian JIN
- Publication Type:Journal Article
- Keywords:
Muscular dystrophy,Duchenne/Beckey;
Dystrophin;
Genes mutation
- From:
Chinese Journal of Laboratory Medicine
2009;32(7):768-771
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the DMD gene mutation sites and the regions of breakpoints in Duchenne/Becker muscular dystrophy (DMD/BMD) patients in northern China. Methods Multiplex amplifiable probe hybridization (MLPA) was used to detect the mutation in 59 cases (51 cases with DMD and 8 with BMD) from northern China and dystrophin gene mutations in their parents. Results From northern China and dystrophin gene mutations 59 families found gene deletions in 33 cases of 59 DMD/BMD patients (55.9%), duplications in 6 cases (10. 2%) and point mutation in one case (1.7%). Intron 44 was most frequently affected (n = 13, 33.3%), followed by intron 50 (n = 11, 28.2%) and intron 45 (n=8, 20.5%). The novel mutations were identified, in two patients including two independent duplications carried by patient D1 149 and a point mutation [5208del(A)] carried by patient D1 65, which were not included in Leiden database. In addition, an exon 22 deletion was found in one patient, which was the first reported case in Chinese patients. Conclusions Deletions are mostly located in the hotspot between exon 45 and 50. Duplications mostly occurred in the 5' end of the gene. Intron 44 is the most frequently affected breakpoint in northern Chinese population.
