نتایج جستجو برای: multiplex ligation
تعداد نتایج: 42263 فیلتر نتایج به سال:
Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri
Objective: Pelizaeus-Merzbacher Disease is a rare X-linked recessive leukodystrophy caused by mutation in the proteolipid protein (PLP) gene on chromosome Xq22. PMD an early-onset neurological disorder characterized nystagmus, spastic quadriplegia, ataxia, and developmental delay. Genetic analysis has identified Xq22 microduplications (60-70%), point mutations (10–25%), deletions (5-10%) within...
Herein we present Gene-Collector, a method for multiplex amplification of nucleic acids. The procedure has been employed to successfully amplify the coding sequence of 10 human cancer genes in one assay with uniform abundance of the final products. Amplification is initiated by a multiplex PCR in this case with 170 primer pairs. Each PCR product is then specifically circularized by ligation on ...
Aberrant DNA methylation is a potential diagnostic marker for complex diseases, such as cancer. With the increase in the number of genes known to exhibit disease-associated aberrant methylation, the need for accurate multiplex assays for quantifying DNA methylation has increased. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is one method that has been highligh...
Medical research is developing an ever greater need for comprehensive high-quality data generation to realize the promises of personalized health care based on molecular biomarkers. The nucleic acid proximity-based methods proximity ligation and proximity extension assays have, with their dual reporters, shown potential to relieve the shortcomings of antibodies and their inherent cross-reactivi...
BACKGROUND Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness of dual priming oligonucleotide multiplex PCR (DPO PCR) in detection of exon deletions of DMD gene. METHODS Thirty-seven DMD or BMD patients who had known exon deletions detected by conventional mult...
conclusions the ligation method with attention to the modifications described further in the article is a simple, safe and cost effective option for the management of urethral prolapse.rnmaintaining the inflated balloon of the foley catheter with timed catheter removal especially adds predictability to this technique. results the mean age of the patients was 6 years old (ranging from 3 to 8 yea...
A significant fraction of hereditary nonpolyposis colorectal cancer cases with defective mismatch repair (ie, Lynch syndrome) have large genomic deletions or duplications in the mismatch repair genes, hMLH1 and hMSH2, which can be challenging to detect by traditional methods. For this study, we developed and validated a novel Southern blot analysis method that allows for ascertainment of the ex...
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