scholarly journals Multiplex ligation-dependent probe amplification using a completely synthetic probe set

BioTechniques ◽  
2004 ◽  
Vol 37 (3) ◽  
pp. 399-405 ◽  
Author(s):  
Rowena F. Stern ◽  
Roland G. Roberts ◽  
Kathy Mann ◽  
Shu C. Yau ◽  
Jonathan Berg ◽  
...  
Keyword(s):  
Synthetic Probe ◽  
Probe Set ◽  
Dependent Probe

Association of CDKN2A/2B deletion with homozygous deletion of TCR- γ gene in T-ALL.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e18516-e18516
Author(s):  
Anita Chopra ◽  
Jay Singh ◽  
Deepak Verma ◽  
Nishi Rajput ◽  
Sameer Bakhshi ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Homozygous Deletion ◽  
Quantitative Assay ◽  
Predictors Of Outcome ◽  
Genetic Aberrations ◽  
The Status ◽  
Probe Set ◽  
Dependent Probe

e18516 Background: T-lineage acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease that arises in a multistep fashion through acquisition of several genetic aberrations. Absence of biallelic deletion of TCR-γ (ABD), a marker of immaturity, and CDKN2A/2B deletion have been identified as poor predictors of outcome in T-ALL treated with contemporary protocols. The aim of this study was to determine the correlation between ABD and CDKN2A/2B in Indian T-ALL patients. Methods: A total of 31 cases of T-ALL, diagnosed on morphology, cytochemistry and immunophenotyping, were included in the study. The age of the patients ranged from 1-50 years. The patients were investigated for CDKN2A/2B deletion by multiplex ligation dependent probe amplification (MLPA) using the commercially available probe set P383 (MRC Holland). The status of the deletion of TCR- γ was determined using quantitative assay described by Gutierrez et al.1 Results: Absence of biallelic deletion of TCR- γ gene were found in 14 (45.16%) patients. Homozygous deletion was seen in 13 (41.93%) patients while monoallelic deletion was seen in 5 (16.12%) patients. CDKN2A/2B deletions were found in (48.38%) patients. On correlation of CDKN2A/2B deletion and TCR- γ deletion, it was found that CDKN2A/2B deletion was found in 2/14 (14.28%) patients with ABD and 10/13 (76.92%) patients with homozygous deletion. Conclusions: CDKN2A/2B deletion are more common in patients with homozygous deletion of TCR- γ gene.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification

2009 ◽  
Vol 31 (6) ◽  
pp. 600-604
Author(s):  
Qian WANG ◽  
Chun-Lian JIN ◽  
Chang-Kun LIN ◽  
Wan-Ting CUI ◽  
Hong-Wei MA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Dependent Probe

Hemorrhoidal Laser procedure (HeLP) and Hemorrrrhoidal Laser procedure + mucopexy (HeLPexx) and other Emerging Technologies

2020 ◽  
Vol 15 ◽  
Author(s):  
Paolo Giamundo
Keyword(s):  
Laser Treatment ◽  
Dentate Line ◽  
Mucosal Prolapse ◽  
Daily Activities ◽  
Common Goal ◽  
Superior Rectal Artery ◽  
Doppler Probe ◽  
The Common ◽  
Probe Set

Background: Minimally-invasive treatments for hemorrhoids should be encouraged as they cause low morbidity, reasonable discomfort and quicker return to work. According to the “vascular theory” hemorrhoidal disease is mainly caused by blood overflow into hemorrhoidal plexus deriving from the superior hemorrhoidal arteries. Introduction: Many different procedures have been described in the literature with the common goal of reducing the blood flow into the hemorrhoidal piles. ‘HeLP’ (Hemorrhoids Laser Procedure) is a novel form of dearterialization to treat patients suffering from symptomatic hemorrhoids. Methods: The procedure consists of the closure of the terminal branches of the superior rectal artery approximately 2-3 cm above the dentate line by means of laser shots originated by a diode laser platform. The arteries, at that level, have variable location and distribution. Therefore, a doppler probe set at the frequency of 20MHz helps identifying the arteries that would be missed otherwise. The laser beam is well tolerated by patients. For this reason, anesthesia is not required in most cases and the procedure allows a quick return to daily activities. In case of concomitant severe mucosal prolapse, the laser treatment can be combined with suture mucopexy. Three to six running sutures allow a complete lifting of hemorrhoidal piles, securing long-term resolution of symptoms. Results and Conclusions: ‘HeLP’ is indicated in patients with symptomatic hemorrhoids where conservative treatment failed and when mucosal prolapse is scarce or not symptomatic. The addition of mucopexy to laser treatment (HeLPexx) contributes to overall resolution of symptoms when mucosal prolapse is an issue, Emborrhoid is another novel, ‘hi-tech’ form of selective dearterialization used in selected case of hemorrhoids where main symptom is bleeding. It is generally used in cases where surgery is contraindicated due to severe concomitant diseases.

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

scholarly journals Effects of Somatic Methylation in Colonic Polyps on Risk of Developing Metachronous Advanced Colorectal Lesions

Cancers ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 246
Author(s):  
Oscar Murcia ◽  
Alejandro Martínez-Roca ◽  
Miriam Juárez ◽  
Mar Giner-Calabuig ◽  
Miren Alustiza ◽  
...  
Keyword(s):  
Cpg Island ◽  
Risk Estimation ◽  
Colonic Polyps ◽  
Cpg Island Methylator Phenotype ◽  
Polyp Size ◽  
Serrated Lesions ◽  
Amplification Technique ◽  
Methylator Phenotype ◽  
The Relationship ◽  
Dependent Probe

The utility of molecular markers for predicting the risk of metachronous advanced colorectal lesions (MACLs) remains poorly investigated. We examined the relationship between somatic hypermethylation in polyps at baseline and the risk of developing MACL. This retrospective cohort study included 281 consecutive patients with colonic polyps who were enrolled between 2007 and 2009 and followed-up until 2014. MACLs were defined as adenomas of >10 mm, high-grade dysplasia, or with a villous component; and serrated lesions of >10 mm or with dysplasia. In total, 595 polyps were removed at baseline colonoscopy and analyzed for pathological characteristics and CpG island methylator phenotype (CIMP) using the MS-MLPA (Methylation-Specific -- Multiplex Ligation-dependent Probe Amplification) technique. Forty-five patients (16.0%) showed at least one CIMP+ polyp. MACL risk was higher in patients with CIMP+ polyps (odds ratio (OR), 4.50; 95% CI, 1.78–11.4; p = 0.002). Patients with CIMP+ polyps also exhibited shorter time to MACL development (33.8 months vs. 50.1 months; p < 0.001), even with adjustment for polyp size and number (OR, 2.40; 95% CI, 1.33–4.34). Adding CIMP analysis improved the sensitivity (57.0% to 70.9%), negative predictive value (71.1% to 77.3%), and overall accuracy (49.8% to 52.0%) for MACL risk estimation. These results highlight that CIMP may be a useful marker for endoscopic surveillance.

MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification

2021 ◽  
pp. 1-8
Author(s):  
Elizabeth A. Price ◽  
Roopal Patel ◽  
Irene Scheimberg ◽  
Esin Kotiloglu Karaa ◽  
Mandeep S. Sagoo ◽  
...  
Keyword(s):  
Mycn Amplification ◽  
Dependent Probe

scholarly journals A target enrichment probe set for resolving the flagellate land plant tree of life

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Jesse W. Breinholt ◽  
Sarah B. Carey ◽  
George P. Tiley ◽  
E. Christine Davis ◽  
Lorena Endara ◽  
...  
Keyword(s):  
Land Plant ◽  
Tree Of Life ◽  
Target Enrichment ◽  
Probe Set
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