MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
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- 作者：Leonela N. Lucea ; 1 ; leonelaluce@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Viviana Dalamonb ; Marcela Ferrerc ; Diana Parmaa ; 1 ; Irene Szijana ; 1 ; Florencia Gilibertoa ; 1
- 关键词：BMD ; Becker Muscular Dystrophy ; CVS ; Chorionic Villus Sample ; DMD ; Duchenne Muscular Dystrophy ; MLPA ; Multiplex Ligation-dependent Probe Amplification ; PCR ; Polymerase Chain Reaction ; STR ; Short Tandem-Repeat ; XLDC ; X-linked Dilated Cardiomiopathy
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 June 2016
- 年：2016
- 卷：365
- 期：Complete
- 页码：22-30
- 全文大小：1444 K
文摘
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MLPA was able to identify 45 deletions, 9 duplications and 2 point mutations.
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We confirmed diagnosis of dystrophinopathy in 63% of boys and symptomatic women.
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We established the carrier status of 54% at-risk women and 3 male villus samples.
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Association between the most frequent intron breakpoints and intragenic STRs loci
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Characterization of the Dystrophinopathies argentine population