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https://www.readbyqxmd.com/read/29136292/clinical-and-genetic-characteristics-of-pseudohypoparathyroidism-in-the-chinese-population
#1
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B, and familial 1B. OBJECTIVES: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. METHODS: From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation-specific multiple ligation-dependent probe amplification (MS-MLPA), and combined bisulfiterestriction analysis (COBRA)...
November 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29127875/derivation-of-the-duchenne-muscular-dystrophy-patient-derived-induced-pluripotent-stem-cell-line-lacking-dmd-exons-49-and-50-ccmi001dmd-a-3-%C3%A2-49-%C3%A2-50
#2
Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29126381/a-genotype-phenotype-study-of-hereditary-multiple-exostoses-in-forty-six-chinese-patients
#3
Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang, Tingting Yu
BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients. METHODS: Forty-six patients from different families were prospectively enrolled. The mutations were identified by direct sequencing of PCR-amplified genomic DNA or by multiplex ligation-dependent probe amplification (MLPA)...
November 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29116469/brca1-deficiency-is-a-recurrent-event-in-early-onset-triple-negative-breast-cancer-a-comprehensive-analysis-of-germline-mutations-and-somatic-promoter-methylation
#4
Rafael Canfield Brianese, Kivvi Duarte de Mello Nakamura, Fernanda Gabriella Dos Santos Ramos de Almeida, Rodrigo Fernandes Ramalho, Bruna Durães de Figueiredo Barros, Elisa Napolitano E Ferreira, Maria Nirvana da Cruz Formiga, Victor Piana de Andrade, Vladmir Claudio Cordeiro de Lima, Dirce Maria Carraro
PURPOSE: BRCA1 germline mutation is closely associated with triple-negative breast cancer. BRCA deficiency leads to impaired DNA repair and tumor development, and understanding this deficiency, in both hereditary and sporadic scenarios, is of great clinical and biological interest. Here, we investigated germline or somatic events that might lead to BRCA1 impairment in triple-negative breast cancer. We also analyzed the clinical implications associated with BRCA deficiency. METHODS: Next-generation sequencing for the BRCA1/2 genes and multiplex ligation-dependent probe amplification (MLPA) for the BRCA1 gene were performed for mutation screening...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29090230/genetic-screening-of-iranian-patients-with-46-xy-disorders-of-sex-development
#5
Azadeh Shojaei, Reza Ebrahimzadeh-Vesal, Ali Ahani, Maryam Razzaghy-Azar, Golnaz Khakpour, Farideh Ghazi, Javad Tavakkoly-Bazzaz
BACKGROUND: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29071816/application-of-multiplex-ligation-dependent-probe-amplification-assay-for-genotyping-major-blood-group-systems-including-del-variants-in-the-d-negative-korean-population
#6
Banseok Kim, Seung Tae Lee, Sinyoung Kim, Jong Rak Choi, Hyun Ok Kim
BACKGROUND: The DEL blood type, a very weak D variant, is a major concern in the field of transfusion medicine because of its potential to cause anti-D alloimmunization. We investigated the molecular basis of serologically D-negative phenotypes, including the DEL type, and the distribution of other blood group systems in the Korean population using the recently developed multiplex ligation-dependent probe amplification (MLPA) assay. METHODS: Blood group genotyping using the MLPA assay and RhCE phenotyping were performed on randomly selected 95 D-negative red blood cell products...
January 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29069255/cytogenomic-assessment-of-the-diagnosis-of-93-patients-with-developmental-delay-and-multiple-congenital-abnormalities-the-brazilian-experience
#7
Évelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, Alexandre Torchio Dias, Gil Monteiro Novo-Filho, Amom Mendes Nascimento, Marília Moreira Montenegro, Jullian Gabriel Damasceno, Fabrícia Andreia Rosa Madia, Thaís Virgínia Moura Machado da Costa, Maria Isabel Melaragno, Chong Ae Kim, Leslie Domenici Kulikowski
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients...
October 2017: Clinics
https://www.readbyqxmd.com/read/29051980/genomic-analysis-of-bacillus-sp-strain-b25-a-biocontrol-agent-of-maize-pathogen-fusarium-verticillioides
#8
Nadia R Douriet-Gámez, Ignacio E Maldonado-Mendoza, Enrique Ibarra-Laclette, Jochen Blom, Carlos L Calderón-Vázquez
Bacillus sp. B25 is an effective biocontrol agent against the maize pathogenic fungus Fusarium verticillioides (Fv). Previous in vitro assays have shown that B25 has protease, glucanase, and chitinase activities and siderophores production; however, specific mechanisms by which B25 controls Fv are still unknown. To determine the genetic traits involved in biocontrol, B25 genome was sequenced and analyzed. B25 genome is composed of 5,113,413 bp and 5251 coding genes. A multilocus phylogenetic analysis (MLPA) suggests that B25 is closely related to the Bacillus cereus group and a high percentage (70-75%) of the genetic information is conserved between B25 and related strains, which include most of the genes associated to fungal antagonism...
October 19, 2017: Current Microbiology
https://www.readbyqxmd.com/read/29050284/mutational-analysis-of-a-chinese-family-with-oculocutaneous-albinism-type-2
#9
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Mutations of TYR, OCA2, TYRP1, and SLC45A2 were examined by using PCR-sequencing. Large deletions or duplications of TYR and OCA2 were examined by Multiplex Ligation-dependent Probe Amplification (MLPA) assay...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29046733/mosaic-genome-wide-maternal-isodiploidy-an-extreme-form-of-imprinting-disorder-presenting-as-prenatal-diagnostic-challenge
#10
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F Barth, Reiner Siebert
BACKGROUND: Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. RESULTS: We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29045167/identification-of-a-novel-de-novo-heterozygous-deletion-in-the-sox10-gene-in-waardenburg-syndrome-type-ii-using-next-generation-sequencing
#11
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29036195/mutational-and-large-deletion-study-of-genes-implicated-in-hereditary-forms-of-primary-hyperparathyroidism-and-correlation-with-clinical-features
#12
Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the clinical features of MEN1 mutation-negative and mutation-positive patients during long-term follow-up and to correlate the specific types and locations of MEN1 gene mutations with onset and aggressiveness of the main MEN1 manifestations...
2017: PloS One
https://www.readbyqxmd.com/read/29029640/breast-carcinomas-with-low-amplified-equivocal-her2-by-ish-potential-supporting-role-of-multiplex-ligation-dependent-probe-amplification
#13
Cristiana Ercolani, Caterina Marchiò, Anna Di Benedetto, Alessandra Fabi, Letizia Perracchio, Patrizia Vici, Francesca Sperati, Simonetta Buglioni, Vincenzo Arena, Edoardo Pescarmona, Anna Sapino, Irene Terrenato, Marcella Mottolese
BACKGROUND: This is a retrospective cross sectional study aimed to verify whether Multiplex Ligation-dependent Probe Amplification (MLPA), a quantitative molecular assay, may represent a valuable reflex test in breast cancer with equivocal HER2 expression by immunohistochemistry and HER2 gene signals/nucleus (s/n) ranging between 4.0 and 5.9 by in situ hybridization. METHODS: A series of 170 breast carcinomas scored as 2+ for HER2 expression by immunohistochemistry, were selected from our files and analyzed in parallel by silver in situ hybridization and by MLPA...
October 13, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/29019333/evaluation-of-brca1-large-genomic-rearrangements-in-group-of-egyptian-female-breast-cancer-patients-using-mlpa
#14
Ola M Eid, Eman A El Ghoroury, Maha M Eid, Rana M Mahrous, Mohamed I Abdelhamid, Zahra I Aboafya, Esmat A Abdel Ghaffar, Amany H Abdelrahman
INTRODUCTION: Breast cancer is one of the most widespread cancers affecting women all over the world. In Egypt, it is considered to be the first cause of malignancies among female. BRCA1 Large Genomic Rearrangements (LGRs) have been reported in hereditary breast families and occurs in considerable proportion of cases in various populations. OBJECTIVE AND METHODS: We investigated the incidence of BRCA1 LGRs in group of Egyptian females with breast cancer using Multiplex Ligation-dependent Probe Amplification (MLPA) assay...
September 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28984810/strc-deletion-is-a-frequent-cause-of-slight-to-moderate-congenital-hearing-impairment-in-the-czech-republic
#15
Pavlina Plevova, Martina Paprskarova, Petra Tvrda, Petra Turska, Rastislav Slavkovsky, Eva Mrazkova
OBJECTIVE: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. STUDY DESIGN: Prospective genetic study. SETTING: Tertiary referral hospital. PATIENTS: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28982351/spectrum-of-pah-gene-variants-among-a-population-of-han-chinese-patients-with-phenylketonuria-from-northern-china
#16
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. METHODS: In total, 655 PKU patients and their families were recruited for this study; each proband was diagnosed both clinically and biochemically with phenylketonuria...
October 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28981927/-analysis-of-smn1-gene-mutations-in-78-patients-with-spinal-muscular-atrophy
#17
Jing Li, Yuling Zhu, Yixin Zhan, Yaqin Li, Menglong Chen, Liang Wang, Ruojie He, Cheng Zhang
OBJECTIVE: To explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis. METHODS: Potential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay. RESULTS: Homozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.7%) of all patients. Homozygous deletion of exons 7 and heterozygous deletion of exon 8 was detected in 3 patients (3...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981562/rare-%C3%AE-0-thalassemia-deletions-detected-by-mlpa-in-five-unrelated-brazilian-patients
#18
Natália O Mota, Elza M Kimura, Roberta D Ferreira, Gisele A Pedroso, Dulcinéia M Albuquerque, Daniela M Ribeiro, Magnun N N Santos, Cristina M Bittar, Fernando F Costa, Maria de Fatima Sonati
Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region...
October 2, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28980559/-molecular-genetic-diagnosis-of-stargardt-disease
#19
N L Sheremet, N V Zhorzholadze, I A Ronzina, I G Grushke, S A Kurbatov, A L Chukhrova, A N Loginova, P O Shcherbakova, A S Tanas, A V Polyakov, V V Strel'nikov
AIM: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. MATERIAL AND METHODS: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28972564/exonization-of-an-intronic-line-1-element-causing-becker-muscular-dystrophy-as-a-novel-mutational-mechanism-in-dystrophin-gene
#20
Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants...
October 3, 2017: Genes
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