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https://www.readbyqxmd.com/read/29774317/frequency-of-rearrangements-versus-small-indels-mutations-in-brca1-and-brca2-genes-in-turkish-patients-with-high-risk-breast-and-ovarian-cancer
#1
Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip
Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Materials and Methods: The study included 1809 patients at high risk of breast cancer or ovarian cancer...
April 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29755684/large-deletion-at-the-cdc73-gene-locus-and-search-for-predictive-markers-of-the-presence-of-a-cdc73-genetic-lesion
#2
Lucia Anna Muscarella, Daniela Turchetti, Andrea Fontana, Filomena Baorda, Orazio Palumbo, Annamaria la Torre, Danilo de Martino, Renato Franco, Nunzia Simona Losito, Andrea Repaci, Uberto Pagotto, Luigia Cinque, Massimiliano Copetti, Maria Grazia Chiofalo, Luciano Pezzullo, Paolo Graziano, Alfredo Scillitani, Vito Guarnieri
The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the CDC73 gene: it has been suggested that early onset of the disease and high Ca2+ levels may predict the presence of a CDC73 mutation. We searched for large deletions at the CDC73 locus in patients with: HPT-JT (nr 2), atypical adenoma (nr 7) or sporadic parathyroid carcinoma (nr 11) with a specific MLPA and qRT-PCR assays applied on DNA extracted from whole blood. A Medline search in database for all the papers reporting a CDC73 gene mutation, clinical/histological diagnosis, age at onset, Ca2+ , PTH levels for familial/sporadic cases was conducted with the aim to possibly identify biochemical/clinical markers predictive, in first diagnosis, of the presence of a CDC73 gene mutation...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29755434/a-polyphasic-and-taxogenomic-evaluation-uncovers-arcobacter-cryaerophilus-as-a-species-complex-that-embraces-four-genomovars
#3
Alba Pérez-Cataluña, Luis Collado, Oscar Salgado, Violeta Lefiñanco, María J Figueras
The species Arcobacter cryaerophilus is found in many food products of animal origin and is the dominating species in wastewater. In addition, it is associated with cases of farm animal and human infectious diseases,. The species embraces two subgroups i.e., 1A (LMG 24291T = LMG 9904T ) and 1B (LMG 10829) that can be differentiated by their 16S rRNA-RFLP pattern. However, some authors, on the basis of the shared intermediate levels of DNA-DNA hybridization, have suggested abandoning the subgroup classification...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29752043/application-of-molecular-cytogenetic-techniques-to-characterize-the-aberrant-y-chromosome-arising-de-novo-in-a-male-fetus-with-mosaic-45-x-and-solve-the-discrepancy-between-karyotyping-chromosome-microarray-and-multiplex-ligation-dependent-probe-amplification
#4
Shin-Yu Lin, Chien-Nan Lee, Ai-Ying Peng, Ti-Jia Yuan, Dong-Jay Lee, Wen-Hsiang Lin, Gwo-Chin Ma, Ming Chen
We present a rare male fetus with karyotype of mosaic 45,X that comprises two types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are expected to result in oligospermia but unaffected male external genitalia. Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting results. Additional molecular cytogenetics tools including fluorescence in situ hybridization (FISH) and multicolor banding (mBAND) were performed, which help resolving the discrepancy and delineated the composition of the aberrant Y chromosomes...
May 8, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29749107/mutation-analysis-of-the-pah-gene-in-phenylketonuria-patients-from-rio-de-janeiro-southeast-brazil
#5
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian D M Carvalho, Lúcia Lacerda, Márcia G Ribeiro
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula...
May 10, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29743853/mitochondrial-dna-copy-number-instability-in-erbb2-amplified-breast-cancer-tumors
#6
Elmira Ebrahimi, Amir Almasi-Hashiani, Kimia Ghaffari, Reza Shirkoohi
Increase in the copy number of ERBB2 , a Tyrosine Kinase Receptor (TKR) leads to the overexpression of oncogene product and consequently uncontrolled cell proliferation which has been reported in different aggressive cancers with mitochondrial malfunctions. Although, amplification of ERBB2 has been reported in different studies; however, the association between changes in mitochondrial DNA content and the ERBB2 gene copy number is poorly understood. The relative mitochondrial DNA content of breast cancer tumor tissues of 70 patients who were referred to Imam Khomeini Hospital Complex was determined using quantitative Real-time PCR...
2018: EXCLI Journal
https://www.readbyqxmd.com/read/29743074/genetic-analyses-in-a-cohort-of-191-pulmonary-arterial-hypertension-patients
#7
Hang Yang, Qixian Zeng, Yanyun Ma, Bingyang Liu, Qianlong Chen, Wenke Li, Changming Xiong, Zhou Zhou
BACKGROUND: Pulmonary arterial hypertension (PAH) is a progressive and fatal disorder associated with high pulmonary artery pressure. Genetic testing enables early diagnosis and offers an opportunity for family screening. To identify genetic mutations and help make a precise diagnosis, we performed genetic testing in 191 probands with PAH and tried to analyze the genotype-phenotype correlation. METHODS: Initially, PAH samples (n = 119) were submitted to BMPR2 screening using Sanger sequencing...
May 9, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29736279/phenotypic-progression-of-stargardt-disease-in-a-large-consanguineous-tunisian-family-harboring-new-abca4-mutations
#8
Yousra Falfoul, Imen Habibi, Ahmed Turki, Ahmed Chebil, Asma Hassairi, Daniel F Schorderet, Leila El Matri
To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull's eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29720104/prenatal-diagnosis-in-a-hereditary-peutz-jeghers-syndrome-family-with-high-cancer-risk
#9
Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen, Baoping Wu
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis is important for patients' psychological status, as well as for clinical management, genetic counseling and possible prenatal family planning...
May 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29691679/the-impact-of-next-generation-sequencing-on-the-diagnosis-of-pediatric-onset-hereditary-spastic-paraplegias-new-genotype-phenotype-correlations-for-rare-hsp-related-genes
#10
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D'Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients showed that, by means of current technologies, the percentage of genetically solved cases is close to 50%. Notably, the percentage of molecularly confirmed diagnoses decreases significantly in sporadic patients. To describe our diagnostic molecular genetic approach on patients with pediatric-onset pure and complex HSP, 47 subjects with HSP underwent molecular screening of 113 known and candidate disease genes by targeted capture and massively parallel sequencing...
April 24, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29682331/-brca-mutation-carrier-detection-a-model-based-cost-effectiveness-analysis-comparing-the-traditional-family-history-approach-and-the-testing-of-all-patients-with-breast-cancer
#11
Jan Norum, Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Dag Erik Undlien, Ellen Schlichting, Lovise Mæhle
Background: Identification of BRCA mutation carriers among patients with breast cancer (BC) involves costs and gains. Testing has been performed according to international guidelines, focusing on family history (FH) of breast and/or ovarian cancer. An alternative is testing all patients with BC employing sequencing of the BRCA genes and Multiplex Ligation Probe Amplification (MLPA). Patients and methods: A model-based cost-effectiveness analysis, employing data from Oslo University Hospital, Ullevål (OUH-U) and a decision tree, was done...
2018: ESMO Open
https://www.readbyqxmd.com/read/29676027/phylogenetic-analyses-of-the-genus-aeromonas-based-on-housekeeping-gene-sequencing-and-its-influence-on-systematics
#12
Aaron Navarro, Antonio Martínez-Murcia
The phylogenies derived from housekeeping gene sequence alignments, although mere evolutionary hypotheses, have increased our knowledge about the Aeromonas genetic diversity, providing a robust species delineation framework invaluable for reliable, easy and fast species identification. Previous classifications of Aeromonas, have been fully surpassed by recently developed phylogenetic (natural) classification obtained from the analysis of so-called "molecular chronometers". Despite ribosomal RNAs cannot split all known Aeromonas species, the conserved nature of 16S rRNA offers reliable alignments containing mosaics of sequence signatures which may serve as targets of genus-specific oligonucleotides for subsequent identification/detection tests in samples without culturing...
April 19, 2018: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/29673731/duplication-of-sox9-associated-with-46-xx-ovotesticular-disorder-of-sex-development
#13
Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto
RESEARCH QUESTION: The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. DESIGN: Ten unrelated SRY-negative 46,XX ovotesticular disorder of sexual development (DSD) subjects were molecularly studied. Multiplex-ligation dependent probe amplification (MLPA) and quantitative real-time PCR analysis (qRT-PCR) for SOX9 were performed...
April 4, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#14
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29668469/moleculary-confirmed-cytogenetic-remission-in-a-case-with-myelodysplastic-syndrome-treated-with-azacitidne
#15
Irina Panovska-Stavridis, Martin Ivanovski, Sanja Trajkova, Aleksandra Pivkova-Veljanovska, Marija Popova-Labaceska, Nadica Matevska-Geshovska, Predrag Noveski, Dijana Plaseska-Karanfilska, Lidija Cevreska, Aleksandar J Dimovski
Myelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients. Here we report a case of a 58-year-old male presented with pancytopenia, macrocytosis, and hyperplastic bone marrow with 3-lineage dysplasia with ~14% of myeloid blasts...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666006/deletion-of-runx1-exons-1-and-2-associated-with-familial-platelet-disorder-with-propensity-to-acute-myeloid-leukemia
#16
Marcela Cavalcante de Andrade Silva, Ana Cristina Victorino Krepischi, Leslie Domenici Kulikowski, Evelin Aline Zanardo, Luciana Nardinelli, Aline Medeiros Leal, Silvia Souza Costa, Nair Hideki Muto, Vanderson Rocha, Elvira Deolinda Rodrigues Pereira Velloso
Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding...
April 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29652985/-mutation-analysis-and-prenatal-diagnosis-for-50-pedigrees-affected-with-duchenne-becker-muscular-dystrophy
#17
Huanzheng Li, Chenyang Xu, Yijian Mao, Jinfang Lu, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29627832/somatically-acquired-isodicentric-y-and-mosaic-loss-of-chromosome-y-in-a-boy-with-hypospadias
#18
Mami Miyado, Koji Muroya, Momori Katsumi, Kazuki Saito, Masafumi Kon, Maki Fukami
Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP...
April 7, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29625676/rapid-and-low-cost-strategy-for-detecting-genome-editing-induced-deletion-a-single-copy-case
#19
Nan Cheng, Qin Wang, Ying Shang, Yuancong Xu, Kunlun Huang, Zhansen Yang, Dengke Pan, Wentao Xu, Yunbo Luo
Genome editing techniques have been implemented in human daily lives, which has created a high demand for the development of new gene-edited product analysis methods. Conventional assays are time-consuming, labor-intensive, and costly. This paper proposes a rapid and low-cost strategy for detecting genome-editing induced deletion which works by integrating rapid-multiplex ligation-dependent probe amplification (MLPA) with a dual-lateral flow nucleic acid biosensor (LFNAB) cascade in a single-copy case. A rapid-MLPA was first introduced to the LFNAB system as a replacement for the conventional PCR for enhanced specificity and accuracy...
August 17, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29625462/retinal-pigment-epithelial-cells-control-early-mycobacterium-tuberculosis-infection-via-interferon-signaling
#20
Rina La Distia Nora, Kimberley V Walburg, P Martin van Hagen, Sigrid M A Swagemakers, Peter J van der Spek, Edwin Quinten, Mirjam van Velthoven, Tom H M Ottenhoff, Willem A Dik, Mariëlle C Haks
Purpose: Mycobacterium tuberculosis (Mtb) bacilli have been found in retinal pigment epithelial (RPE) cells from uveitis patients without signs of systemic tuberculosis (TB) infection. RPE cells are important for ocular immune privilege and uveitis development. Methods: To address a potential role for Mtb-infected RPE cells in the development of uveitis, we delineated the response to Mtb infection in human RPE cells and primary human macrophages, the main target cell of Mtb...
March 1, 2018: Investigative Ophthalmology & Visual Science
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