Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...

BACKGROUND The purpose of this study was to examine the relationship of physical activity levels with sleep duration (SD), and self-rated health (SRH) using the fifth Korean National Health and Nutrition Examination Survey data from 2010 and 2011. METHOD Overall, 12,188 Korean people were evaluated in relation to meeting guidelines for vigorous PA (MVPA), moderate PA (MMPA), and low PA (MLPA)...

BACKGROUND Genetic testing for Duchenne/Becker muscular dystrophy (DMD/BMD) mutations initially involved multiplex polymerase chain reaction (mPCR), which targeted two mutation hotspots in the gene and detected deletions in affected males. A newer technology, multiplex ligation-dependent probe amplification (MLPA), was introduced for diagnostic testing in 2007. OBJECTIVES To evaluate MLPA rel...

the purpose of this study was to examine the relationship of physical activity levels with sleep duration (sd), and self-rated health (srh) using the fifth korean national health and nutrition examination survey data from 2010 and 2011.overall, 12,188 korean people were evaluated in relation to meeting guidelines for vigorous pa (mvpa), moderate pa (mmpa), and low pa (mlpa) associated with sd a...

Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...

AIMS We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHOD...

This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted from various sources using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Multiplex ligation-dependent probe amplification (MLPA) is a powerful and easy-to-perform PCR-based technique that can identify g...

BACKGROUND Multiplex Ligation dependent Probe Amplification (MLPA) is a rapid, simple, reliable and customized method for detection of copy number changes of individual genes at a high resolution and allows for high throughput analysis. This technique is typically applied for studying specific genes in large sample series. The large amount of data, dissimilarities in PCR efficiency among the di...

BACKGROUND Assessment of HER-2/neu status in invasive breast cancer is crucial to establish eligibility for trastuzumab and taxane based chemotherapy. Next to immunohistochemistry (IHC) to evaluate protein overexpression, a second line gene amplification test is required for cases with equivocal protein expression. This study aimed to validate a new PCR based test, called Multiplex Ligation-dep...

Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in presence absence ionizing radiation. WTK1 cells contain a p53 mutation, whereas TK6 line has native tumor-suppressor gene. Each isolated pre- post-irradiation (2 3 Gy) analyzed by MLPA. Using probes that target specific regions o...