采用短串联重复序列分离分析对阿根廷家系进行杜氏/贝克型肌营养不良症的产前诊断。

Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families.

机构信息

Department of Genetics and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Buenos Aires, Carlos Calvo 856 1° A, CP 1102, Capital Federal, Buenos Aires, Argentina.

出版信息

Muscle Nerve. 2011 Apr;43(4):510-7. doi: 10.1002/mus.21904. Epub 2011 Feb 8.

DOI:10.1002/mus.21904

PMID:21305566

Abstract

INTRODUCTION

Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked recessive diseases caused by mutations in the dystrophin gene.

METHODS

We used multiplex polymerase chain reaction (PCR) and short tandem repeat (STR) segregation analysis for DMD/BMD-carrier detection and prenatal diagnosis.

RESULTS

Twenty-four at-risk pregnancies were evaluated: 17 were excluded from carrying dystrophin gene mutations with 95-100% certainty. Of the remaining cases, 2 were determined to carry a dystrophin gene mutation with 95-100% certainty. Three cases had a 67% probability of carrying the mutation, and 2 others were not informative. The certainty of the test increased to ~100% in some cases due to the identification of several genetic events: 4 recombinations; 4 de novo mutations; and 8 deletions encompassing some of the STRs evaluated.

DISCUSSION

Overall, 19 of 24 (79%) molecular prenatal diagnoses were informative, indicating that multiplex PCR/STR segregation analysis is a reliable method for carrier detection and prenatal diagnosis when other more sophisticated techniques are unavailable.

摘要

简介

杜氏/贝克尔肌营养不良症（DMD/BMD）是一种 X 连锁隐性疾病，由 dystrophin 基因突变引起。

方法

我们使用多重聚合酶链反应（PCR）和短串联重复序列（STR）分离分析进行 DMD/BMD 携带者检测和产前诊断。

结果

评估了 24 例高危妊娠：17 例排除携带 dystrophin 基因突变的可能性为 95-100%。其余病例中，2 例确定携带 dystrophin 基因突变的可能性为 95-100%。3 例携带突变的可能性为 67%，另外 2 例则无信息。由于鉴定出了 4 个重组、4 个新生突变和 8 个包含评估的一些 STR 的缺失等几个遗传事件，检测的确定性在某些情况下增加到了~100%。