background: baculoviral inhibitor of apoptosis repeat-containing 5 (birc5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. the copy number of birc5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. methods: forty tumor tiss...

Abstract The IDH-wild-type lower-grade astrocytomas are a heterogeneous entity. According to 2021 WHO classification, with any of the following factors show poor prognosis: combination chromosome 7 gain and 10 loss (+7/-10), and/or EGFR amplification, TERT promoter (TERTp) mutation. Multiplex ligation-dependent probe amplification (MLPA) can detect copy number alterations reasonable cost. purpo...

Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by the presence of multiple polyps in colon. The main cause disease germline mutation APC gene. Here we report 4 unrelated FAP patients with different large deletions gene detected Multiplex Ligation-dependent Probe Amplification (MLPA) method: deletion exons 7-15, promoters B, A, and 5'-UTR region promoter B (in 2 pati...

We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated t...

In this study, we developed rapid and sensitive assays for the detection of Cladophialophora carrionii, a common agent of human chromoblastomycosis. The isothermal techniques evaluated were rolling-circle amplification (RCA), multiplex ligation-dependent probe amplification (MLPA), and loop-mediated isothermal amplification (LAMP). The probes for RCA and MLPA were designed with target sequences...

Risk stratification in myeloma requires an accurate assessment of the presence of a range of molecular abnormalities including the differing IGH translocations and the recurrent copy number abnormalities that can impact clinical behavior. Currently, interphase fluorescence in situ hybridization is used to detect these abnormalities. High failure rates, slow turnaround, cost, and labor intensive...

BACKGROUND In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems. However, there has been a lot of debate about their significance. In order to study such deletions, a simple but accurate method for their detection was applied in this study. METHODS We present data obtained from the Multiplex Li...

Whilst next generation sequencing can report point mutations in fixed tissue tumour samples reliably, the accurate determination of copy number is more challenging. The conventional Multiplex Ligation-dependent Probe Amplification (MLPA) assay is an effective tool for measurement of gene dosage, but is restricted to around 50 targets due to size resolution of the MLPA probes. By switching from ...