Genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy by multiplex ligation-dependent probe amplification

ZHONG Qing-yan; YAN Ti-zhen; ZENG Ting; LUO Shi-qiang; TANG Ning; TAN Jian-qiang; ZHENG Min; YA Jiao-lian; LI Hong-hui; CAI Ren

doi:10.11852/zgetbjzz2017-25-04-06

PDF(701 KB)

Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (4) : 342-345. DOI: 10.11852/zgetbjzz2017-25-04-06

Genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy by multiplex ligation-dependent probe amplification

ZHONG Qing-yan¹,YAN Ti-zhen¹,ZENG Ting²,LUO Shi-qiang¹,TANG Ning¹,TAN Jian-qiang¹,ZHENG Min³,YA Jiao-lian¹,LI Hong-hui²,CAI Ren¹

Author information +

History +

Abstract

Objective To assess the value of multiplex ligation dependent probe amplification (MLPA) for the genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy (DMD/BMD). Methods Twenty two patients clinically diagnosed with DMD/BMD were recruited.Copy number variations (including deletion or duplication mutations) of the 79 exons of the DMD gene were detected by MLPA.For cases requesting prenatal diagnosis,short tandem repeat (STR) capillary e1ectrophoresis,linkage analysis and MLPA were applied to determine fetal DMD gene. Results Among the 22 patients,deletions and duplications encompassing two or more exons were identified in 15 and 4 cases with MLPA,respectively.Three patients had no copy number variations.Of the 14 mothers with MLPA positive sons,9 were found to carry either deletions or duplications.Prenata1 diagnosis had identified 3 female carrier fetuses,3 male normal fetuses and 1 female normal fetal in the 7 cases examined,which was in conformity with linkage analysis. Conclusion The data demonstrated that MLPA is a accurate,rapid and reliable method for detecting copy number variations (deletions or duplications) of the DMD gene.

Key words

multiplex ligation-dependent probe / Duchenne/Becker muscular dystrophy / genetic diagnosis / prenatal diagnosis

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

ZHONG Qing-yan,YAN Ti-zhen,ZENG Ting,LUO Shi-qiang,TANG Ning,TAN Jian-qiang,ZHENG Min,YA Jiao-lian,LI Hong-hui,CAI Ren. Genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy by multiplex ligation-dependent probe amplification[J]. Chinese Journal of Child Health Care. 2017, 25(4): 342-345 https://doi.org/10.11852/zgetbjzz2017-25-04-06

References

[1] 中华医学会神经病学分会.中国假肥大型肌营养不良症诊治指南[J].中华神经科杂志,2016,49(1):17-20.
[2] 冯善伟,梁颖茵,操基清.假肥大型肌营养不良症的基因型与临床表型关系分析[J].中华医学遗传学杂志,2012,29(6):653-657.
[3] Bushby K,Finkel R,Birnkrant DJ,et al.Diagnosis and management of Duchenne muscular dystrophy,part 1:diagnosis,and pharmacological and psychosocial management[J].Lancet Neurol,2010,9(1):77-93.
[4] Bladen CL,Salgado D,Monges S,et al.The TREAT-NMD DMD Global Database:analysis of more than 7,000 Duchenne muscular dystrophy mutations[J].Hum Mutat,2015,36(4):395-402.
[5] Aartsma-Rus A,Ginjaar IB,Bushby K.The importance of genetic diagnosis for Duchenne muscular dystrophy[J].J Med Genet,2016,53(3):145-151.
[6] Le Rumeur E.Dystrophin and the two related genetic diseases,Duchenne and Becker muscular dystrophies[J].Bosn J Basic Med Sci,2015,15(3):14-20.
[7] 王蕾,朱宝生,郭晶晶.多重连接依赖探针扩增技术在假肥大型肌营养不良症基因诊断中的应用[J].中华检验医学杂志,2016,39(4):301-303.
[8] 张媛媛,刘晓亮,何蓉,等.多重连接依赖探针扩增在假肥大型肌营养不良症家系基因诊断中的应用[J].中华医学遗传学杂志,2014,31(3):338-343.
[9] Luce LN,Dalamon V,Ferrer M,et al.MLPA analysis of an Argentine cohort of patients with dystrophinopathy:Association of intron breakpoints hot spots with STR abundance in DMD gene[J].J Neurol Sci,2016,365:22-30.
[10] 王皖骏,朱海燕,朱瑞芳,等.假肥大型肌营养不良症家系的基因检测与产前诊断[J].中华医学遗传学杂志,2013,30(1):45-48.
[11] Okubo M,Minami N,Goto K,et al.Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing:validation analysis of DMD mutations[J].J Hum Genet,2016,61(6):483-489.
[12] 王军,彭武,胡雪姣,等.中国西南地区170例杜氏/贝氏肌营养不良症dystrophin基因变异谱分析[J].四川大学学报:医学版,2016,47(2):232-237.
[13] Tran VK,Ta VT,Vu DC,et al.Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients[J].J Neurogenet,2013,27(4):170-175.
[14] Taglia A,Petillo R,D'Ambrosio P,et al.Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene[J].Acta Myol,2015,34(1):9-13.
[15] Wilton SD,Fletcher S.Splice modification to restore functional dystrophin synthesis in Duchenne muscular dystrophy[J].Curr Pharm Des,2010,16(8):988-1001.