Erratum to: Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis

Hemoglobin (Hb) Lepore is composed of two normalαchains and twoδβfusion globins that arise from unequal crossover events between theδ- andβ-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with aβ-thalassemia phenotype. Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual. The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices. The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing. This latter allowed us to define the correct structure of the hybridδβ-globin gene. The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.

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Simultaneous Detection of Trisomies 13, 18, and 21 with Multiplex Ligation-Dependent Probe Amplification–Based Real-Time PCR

Clinical Chemistry ◽

10.1373/clinchem.2010.146472 ◽

2010 ◽

Vol 56 (9) ◽

pp. 1451-1459 ◽

Cited By ~ 13

Author(s):

Qiwei Guo ◽

Yulin Zhou ◽

Xiaobo Wang ◽

Qingge Li

Keyword(s):

Prenatal Diagnosis ◽

Real Time ◽

Real Time Pcr ◽

Karyotype Analysis ◽

Simultaneous Detection ◽

Maternal Blood ◽

Trisomy 13 ◽

Clinical Samples ◽

Dependent Probe ◽

Single Reaction

BACKGROUND Trisomies 13, 18, and 21 account for the majority of chromosomal aneuploidies detected in prenatal diagnosis. Diagnosis of these trisomies relies mainly on karyotype analysis. Several molecular methods have been developed for trisomy detection, but performance or throughput limitations of these methods currently constrain their use in routine testing. METHODS We developed multiplex ligation-dependent probe amplification–based real-time PCR (MLPA/rtPCR) to simultaneously detect these 3 trisomy conditions with a single reaction. We applied the method to DNA isolated from 144 blinded clinical samples that included 32 cases of trisomy 21, 11 cases of trisomy 18, 1 case of trisomy 13, and 100 unaffected control samples; results were compared with karyotype analysis. RESULTS As judged by the results of the karyotype analysis, MLPA/rtPCR correctly detected all 44 cases of trisomy in the analysis of the blinded clinical samples. The method was able to detect a change in chromosome dosage as low as 1.2-fold. CONCLUSIONS This novel PCR-based technology simultaneously identified 3 types of trisomy in a single reaction and accurately detected trisomy with mosaicism, while reducing assay times and costs compared with conventional methods. The MLPA/rtPCR approach may have applicability in noninvasive prenatal diagnosis with maternal blood samples.

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572: The use of multiplex ligation-dependent probe amplification (MLPA) versus karyotype analysis in the investigation of pregnancy loss

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2012.10.738 ◽

2013 ◽

Vol 208 (1) ◽

pp. S245

Author(s):

Danielle O'Leary ◽

Keelin O'Donoghue

Keyword(s):

Pregnancy Loss ◽

Karyotype Analysis ◽

Dependent Probe

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Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing

Clinica Chimica Acta ◽

10.1016/j.cca.2013.04.006 ◽

2013 ◽

Vol 423 ◽

pp. 35-38 ◽

Cited By ~ 13

Author(s):

Wan-Jin Chen ◽

Qi-Fang Lin ◽

Qi-Jie Zhang ◽

Jin He ◽

Xin-Yi Liu ◽

...

Keyword(s):

Muscular Dystrophy ◽

Molecular Analysis ◽

Sanger Sequencing ◽

Dystrophin Gene ◽

Becker Muscular Dystrophy ◽

Chinese Patients ◽

Dependent Probe

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Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis

Prenatal Diagnosis ◽

10.1002/pd.2424 ◽

2010 ◽

Vol 30 (2) ◽

pp. 133-137 ◽

Cited By ~ 24

Author(s):

Celia Donaghue ◽

Kathy Mann ◽

Zoe Docherty ◽

Roberto Mazzaschi ◽

Claudine Fear ◽

...

Keyword(s):

Molecular Analysis ◽

Karyotype Analysis

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First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification

Clinical Genetics ◽

10.1111/cge.12727 ◽

2016 ◽

Vol 89 (5) ◽

pp. 620-624 ◽

Cited By ~ 7

Author(s):

J. G. Zimowski ◽

D. Massalska ◽

M. Pawelec ◽

J. Bijok ◽

A. Michałowska ◽

...

Keyword(s):

Molecular Analysis ◽

Pregnancy Loss ◽

First Trimester ◽

Spontaneous Pregnancy ◽

Dependent Probe

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Retrospective karyotype study in mentally retarded patients

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.62.03.262 ◽

2016 ◽

Vol 62 (3) ◽

pp. 262-268 ◽

Cited By ~ 1

Author(s):

Wellcy Gonçalves Teixeira ◽

Fabiana Kalina Marques ◽

Maíra Cristina Menezes Freire

Keyword(s):

Retrospective Study ◽

Chromosomal Abnormalities ◽

Karyotype Analysis ◽

Comparative Genomic ◽

Analysis Method ◽

Structural Rearrangements ◽

Initial Screening ◽

Chromosomal Alterations ◽

Structural Alterations ◽

Dependent Probe

SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

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