Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

被引：25

作者：

Passon, Nadia ^{[1
]}

de Wittenau, Giorgia Dubsky ^{[1
]}

Jurman, Irena ^{[2
]}

Radovic, Slobodanka ^{[3
]}

Bregant, Elisa ^{[1
]}

Molinis, Cristiano ^{[1
]}

Damante, Giuseppe ^{[1
,4
]}

Lonigro, Incoronata Renata ^{[1
,5
]}

机构：

[1] Univ Udine, Dipartimento Sci & Tecnol Biomed, I-33100 Udine, Italy

[2] Ist Genom Applicata, I-33100 Udine, Italy

[3] Univ Udine, Dipartimento Sci Agr & Ambientali, I-33100 Udine, Italy

[4] Univ S Maria della Misericordia Udine, Azienda Osped, I-33100 Udine, Italy

[5] Ist Nazl Biostrutture & Biosistemi, I-00136 Rome, Italy

来源：

MOLECULAR AND CELLULAR PROBES | 2010年 / 24卷 / 05期

关键词：

MLPA; SMN1; SMN2; Spinal muscular atrophy; SMA; SPINAL MUSCULAR-ATROPHY; QUANTITATIVE-ANALYSIS; RISK ASSESSMENT; CARRIER; GENE; PCR; IDENTIFICATION; PREVALENCE; MUTATIONS; DIAGNOSIS;

D O I：

10.1016/j.mcp.2010.07.001

中图分类号：

Q5 [生物化学];

学科分类号：

070307 [化学生物学];

摘要：

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused in about 95% of SMA patients by homozygous deletion of the survival motor neuron 1 (SMN1) gene or its conversion to the highly homologous SMN2 gene. In the majority of cases, disease severity correlates inversely with increased SMN2 copy number. Because of the comparatively high incidence of healthy carriers and severity of the disease, detection of sequence alterations and quantification of SMN1 and SMN2 copy numbers are essential for exact diagnosis and genetic counselling. Several assays have been developed for this purpose. Multiplex ligation-dependent probe amplification (MLPA) is a versatile technique for relative quantification of different nucleic acid sequences in a single reaction. Here, we establish a quick MLPA-based assay for the detection of SMN1 and SMN2 copy numbers with high specificity and low complexity. (C) 2010 Elsevier Ltd. All rights reserved.

引用

页码：310 / 314

页数：5

共 23 条

[1]

Determination of SMN1 and SMN2 copy number using TaqMan™ technology [J].

Anhuf, D ;

Eggermann, T ;

Rudnik-Schöneborn, S ;

Zerres, K .

HUMAN MUTATION, 2003, 22 (01) :74-78

[2]

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy [J].

Arkblad, Eva L. ;

Darin, Niklas ;

Berg, Kerstin ;

Kimber, Eva ;

Brandberg, Goeran ;

Lindberg, Christopher ;

Holmberg, Eva ;

Tulinius, Mar ;

Nordling, Margareta .

NEUROMUSCULAR DISORDERS, 2006, 16 (12) :830-838

[3]

Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion [J].

Baris, Ibrahim ;

Etlik, Ozdal ;

Koksal, Vedat ;

Arican-Baris, S. Tugba .

MOLECULAR AND CELLULAR PROBES, 2010, 24 (03) :138-141

[4]

When is a deletion not a deletion? When it is converted [J].

Burghes, AHM .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) :9-15

[5]

Prevalence of SMN1 deletion and duplication in carrier and normal populations:: implication for genetic counselling -: art. no. e39 [J].

Cusin, V ;

Clermont, O ;

Gérard, B ;

Chantereau, D ;

Elion, J .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (04)

[6]

A HUNGARIAN STUDY ON WERDNIG-HOFFMANN DISEASE [J].

CZEIZEL, A ;

HAMULA, J .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (12) :761-763

[7]

Emery A E, 1991, Neuromuscul Disord, V1, P19, DOI 10.1016/0960-8966(91)90039-U

[8]

Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy [J].

Feldkötter, M ;

Schwarzer, V ;

Wirth, R ;

Wienker, TF ;

Wirth, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (02) :358-368

[9]

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification [J].

Huang, Chien-Hao ;

Chang, Yih-Yuan ;

Chen, Chung-Hsiung ;

Kuo, Yen-Shi ;

Hwu, Wuh-Liang ;

Gerdes, Tommy ;

Ko, Tsang-Ming .

GENETICS IN MEDICINE, 2007, 9 (04) :241-248

[10]

HUNGYI K, 2006, CLIN CHEM, V52, P361

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