MOLECULAR DIAGNOSTICS OF DUCHENNE/BECKER MUSCULAR DYSTROPHY PATIENTS BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION ANALYSIS AND DIRECT SEQUENCING

被引：0

作者：

Todorova, A. ^{[1
]}

Guergueltcheva, V ^{[2
]}

Genova, J. ^{[3
]}

Mihaylova, V ^{[2
]}

Todorov, T. ^{[1
]}

Tchamova, T. ^{[2
]}

Georgieva, B. ^{[1
]}

Kremensky, I ^{[4
]}

Tournev, I ^{[2
,5
]}

Mitev, V ^{[1
]}

机构：

[1] Med Univ Sofia, Dept Chem & Biochem, Sofia 1431, Bulgaria

[2] Med Univ Sofia, Alexandrovska Hosp, Neurol Clin, Sofia 1431, Bulgaria

[3] Genet Med Diagnost Lab Genica, Sofia, Bulgaria

[4] Med Univ Sofia, Hosp Obstet & Gynecol, Natl Genet Lab, Sofia 1431, Bulgaria

[5] New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2009年 / 12卷 / 02期

关键词：

Duchenne/Becker muscular dystrophy (DMB/BMD); DMD gene; Dystrophin; Deletions; Duplications; Point mutations; Multiplex ligation-dependent probe amplification (MLPA) analysis; GENE; DELETIONS;

D O I：

10.2478/v10034-010-0002-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Duchenne/Becker muscular dystrophy (DMD/BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene. We screened this gene in 51 unrelated Bulgarian DMD/BMD patients and four families with no living index patient available, by multiplex ligation-dependent probe amplification (MLPA) analysis, which is a powerful tool for detecting deletion/duplication along the DMD gene. This, in combination with direct sequencing, characterized the mutation in all patients, which comprised 42 deletions (82%), six duplications (12%) and three point mutations (6%), and precisely determined all deletion/duplication borders. In all the families with no living index patient available, deletions were detected by direct analysis on the patients' mothers and sisters, proving the value of MLPA for carrier status determination.

引用

页码：3 / 9

页数：7

共 9 条

[1]

BEGGS AH, 1990, HUM GENET, V86, P45

[2] DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION [J].