Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

被引：181

作者：

Stuppia, Liborio ^{[1
]}

Antonucci, Ivana ^{[1
]}

Palka, Giandomenico ^{[1
]}

Gatta, Valentina ^{[1
]}

机构：

[1] Univ G DAnnunzio, Dept Oral Sci Nano & Biotechnol, I-66013 Chieti, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2012年 / 13卷 / 03期

关键词：

gene copy number; MLPA; CNV; molecular diagnosis; genetic disease; DEPENDENT PROBE AMPLIFICATION; NONPOLYPOSIS COLORECTAL-CANCER; SPINAL MUSCULAR-ATROPHY; CHRONIC LYMPHOCYTIC-LEUKEMIA; IN-SITU HYBRIDIZATION; LARGE GENOMIC DELETIONS; MARIE-TOOTH-DISEASE; DMD GENE; DYSTROPHIN GENE; SHORT STATURE;

D O I：

10.3390/ijms13033245

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

\ Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.

引用

页码：3245 / 3276

页数：32

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