keyword
MENU ▼
Read by QxMD icon Read
search

MLPA

keyword
https://www.readbyqxmd.com/read/28087349/combination-of-multiple-ligation-dependent-probe-amplification-and-illumina-miseq-amplicon-sequencing-for-tsc1-tsc2-gene-analyses-in-patients-with-tuberous-sclerosis-complex
#1
Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor AzniYahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Zabidi Azhar Mohd Hussin
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate...
January 10, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28079318/duchenne-muscular-dystrophy-and-becker-muscular-dystrophy-confirmed-by-multiplex-ligation-dependent-probe-amplification-genotype-phenotype-correlation-in-a-large-cohort
#2
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Deepha Sekar, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini
BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. METHODS: A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#3
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28069272/smarcb1-ini1-deficient-sinonasal-carcinoma-shows-methylation-of-rassf1-gene-a-clinicopathological-immunohistochemical-and-molecular-genetic-study-of-a-recently-described-entity
#4
Jan Laco, Marcela Chmelařová, Hana Vošmiková, Kateřina Sieglová, Ivana Bubancová, Pavel Dundr, Kristýna Němejcová, Jaroslav Michálek, Petr Čelakovský, Radovan Mottl, Igor Sirák, Milan Vošmik, Aleš Ryška
The aim of the study was detailed clinicopathological investigation of SMARCB1/INI1-deficient sinonasal carcinomas, including molecular genetic analysis of mutational status and DNA methylation of selected protooncogenes and tumor suppressor genes by means of next generation sequencing (NGS) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). A total of 4/56 (7%) cases of SMARCB1/INI1-deficient carcinomas were detected among 56 sinonasal carcinomas diagnosed over a 19year period using immunohistochemical screening...
October 25, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28057878/pseudoautosomal-abnormalities-in-terminal-azfb-c-deletions-are-associated-with-isochromosomes-yp-and-may-lead-to-abnormal-growth-and-neuropsychiatric-function
#5
A Castro, F Rodríguez, M Flórez, P López, B Curotto, D Martínez, A Maturana, M C Lardone, C Palma, V Mericq, M Ebensperger, F Cassorla
STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? SUMMARY ANSWER: Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28040058/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene-mutations-in-north-egyptian-population-implications-for-the-genetic-diagnosis-in-egypt
#6
A El-Seedy, M C Pasquet, H Shafiek, T Morsi, A Kitzis, V Ladevèze
Cystic fibrosis (CF) occurrence in Arab populations is not common and still remains underidentified. Furthermore, the lack of disease awareness and diagnosis facilities have mislead the identification of cystic fibrosis for decades. The knowledge about cystic fibrosis (CF) in Egypt is very limited, and a few reports have drawn attention to the existence of CF or CFTR-related disorders (CFTR-RDs) in the Egyptian population. Therefore a comprehensive genetic analysis of the CFTR gene was realized in patients of North Egypt...
November 30, 2016: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28002029/qmpsf-is-sensitive-and-specific-in-the-detection-of-nphp1-heterozygous-deletions
#7
Eszter Jávorszky, Vincent Morinière, Andrea Kerti, Eszter Balogh, Henriett Pikó, Sophie Saunier, Veronika Karcagi, Corinne Antignac, Kálmán Tory
BACKGROUND: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general population, is the most common mutation leading to a monogenic form of childhood chronic renal failure. It is challenging to detect it in the heterozygous state. We aimed to evaluate the sensitivity and the specificity of the quantitative multiplex PCR of short fluorescent fragments (QMPSF) in its detection...
December 21, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28000143/update-on-novel-ccm-gene-mutations-in-patients-with-cerebral-cavernous-malformations
#8
Concetta Scimone, Placido Bramanti, Concetta Alafaci, Francesca Granata, Francesco Piva, Carmela Rinaldi, Luigi Donato, Federica Greco, Antonina Sidoti, Rosalia D'Angelo
Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain. To date, three CCM causative genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. In our previous mutation screening, performed in a cohort of 95 Italian patients, with both sporadic and familial cases, we identified several mutations in CCM genes...
December 20, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27997221/design-and-validation-of-a-new-mlpa-based-assay-for-the-detection-of-rs1-gene-deletions-and-application-in-a-large-family-with-x-linked-juvenile-retinoschisis
#9
Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese, Sabrina Benedetti, Orazio Palumbo, Michelina Rendina, Leonardo D'Agruma, Benedetto Falsini, Xinjing Wang, Matteo Bertelli
AIMS: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and females are usually carriers. The identification of female carriers is always important and poses a technical challenge. Therefore, we sought to develop a multiplex ligation dependent probe amplification (MLPA)-based method to identify deletions or duplications in this gene...
December 20, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27996019/intragenic-cftr-duplication-and-5t-12tg-variant-in-a-patient-with-non-classic-cystic-fibrosis
#10
Patricia B S Celestino-Soper, Edward Simpson, Danika Tumbleson Brink, Ty C Lynnes, Stephen Dlouhy, Matteo Vatta, Jana Yeley, Cynthia Brown, Shaochun Bai
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that produce a defective protein from both alleles of the CFTR gene. Individuals with other variants may present with classic, non-classic, or milder forms of CF due to lower levels of functional CFTR protein...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27994182/identification-of-a-novel-15-5-kb-shox-deletion-associated-with-marked-intrafamilial-phenotypic-variability-and-analysis-of-its-molecular-origin
#11
Angelos Alexandrou, Ioannis Papaevripidou, Kyriakos Tsangaras, Ioanna Alexandrou, Marios Tryfonidis, Violetta Christophidou-Anastasiadou, Eleni Zamba-Papanicolaou, George Koumbaris, Vassos Neocleous, Leonidas A Phylactou, Nicos Skordis, George A Tanteles, Carolina Sismani
Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27992490/intragenic-deletions-in-atp7b-as-an-unusual-molecular-genetics-mechanism-of-wilson-s-disease-pathogenesis
#12
Theodor Todorov, Prahlad Balakrishnan, Alexey Savov, Piotr Socha, Hartmut H J Schmidt
Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon amplification since the normal allele will mask its presence. The aim of the present work was to search for unusual mutational events in the unexplained WD cases and to provide insight into the mechanisms. Out of 1420 clinically and biochemically confirmed WD samples received between 2000 and 2014 for routine mutation analysis, we were unable to detect mutant alleles in 142 samples, after extensive sequencing analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27984608/-application-of-combined-chromosome-karyotype-analysis-and-multiplex-ligation-probe-amplification-technique-for-the-prenatal-diagnosis-of-fetal-abnormalities
#13
Nan Jiang, Dongyi Yu
OBJECTIVE: To assess the value of combined chromosome karyotype analysis and multiplex ligation probe amplification (MLPA) assay for the prenatal diagnosis of fetuses with abnormalities detected by ultrasonography. METHODS: With informed consent obtained, 72 pregnant women with ultrasound detected fetal structural abnormalities underwent percutaneous umbilical cord blood sampling. Routine karyotype analysis and MLPA assay were used to detect potential chromosomal deletions and duplications...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27984605/-genetic-analysis-for-a-family-affected-with-hemophilia-type-a-due-to-a-large-deletion-of-f8-gene
#14
Nan Bai, Shiyue Mei, Ning Liu, Zhenhua Zhao, Jingjing Meng, Xiangdong Kong
OBJECTIVE: To detect potential mutation of F8 gene in a family affected with hemophilia type A. METHODS: Inverse-shifting PCR (IS-PCR), next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and short tandem repeat (STR) assays were used. RESULTS: IS-PCR showed that no inversion of F8 gene has occurred in the family. NGS detected no point mutation or small InDel in the proband, but suggested that the exon 2 of the F8 gene may be deleted...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27984601/-mutation-analysis-of-81-cases-with-duchenne-becker-muscular-dystrophy
#15
Shuang Li, Ying Bai, Zhenhua Zhao, Xiangdong Kong
OBJECTIVE: To perform mutation analysis for 81 unrelated patients with Duchenne/Becker muscular dystrophy (DMD/BMD) from Henan Province. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to detect potential deletion/duplications of the DMD gene. Those with single exon deletions were validated with PCR amplification and Sanger sequencing to rule out false positive results. Patients with negative MLPA results were further analyzed with next-generation sequencing (NGS), and the result was validated by Sanger sequencing...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27983729/genetic-screening-in-iranian-patients-with-retinoblastoma
#16
K Shahraki, A Ahani, P Sharma, M Faranoush, G Bahoush, I Torktaz, W A Gahl, M Naseripour, B Behnam
PurposeThe most common intraocular tumor in childhood, retinoblastoma, is largely associated with mutations in the RB1 gene. In the most comprehensive RB1 screening in Iran, we evaluated the RB1 mutations in 106 patients with retinoblastoma, including 73 bilateral (heritable) and 33 unilateral (sporadic) cases.Patients and methodsMutations were identified using amplification refractory mutation system (ARMS) PCR and direct sequencing of the 27 coding exons of RB1 and multiplex ligation-dependent probe amplification (MLPA)...
December 16, 2016: Eye
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#17
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27978878/-pax3-gene-mutation-analysis-for-two-waardenburg-syndrome-type-%C3%A2-families-and-their-prenatal-diagnosis
#18
Y Bai, N Liu, X D Kong, J Yan, Z B Qin, B Wang
Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods:PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping...
December 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/27967600/dna-methylation-is-an-independent-prognostic-marker-of-survival-in-adrenocortical-cancer
#19
Anne Jouinot, Guillaume Assie, Rossella Libe, Martin Fassnacht, Thomas Papathomas, Olivia Barreau, Bruno DE LA Villeon, Simon Faillot, Nadim Hamzaoui, Mario Neou, Karine Perlemoine, Fernande Rene-Corail, Stéphanie Rodriguez, Mathilde Sibony, Frédérique Tissier, Bertrand Dousset, Silviu Sbiera, Cristina Ronchi, Matthias Kroiss, Esther Korpershoek, Ronald DE Krijger, Jens Waldmann, Detlef K Bartsch, Marcus Quinkler, Magalie Haissaguerre, Antoine Tabarin, Olivier Chabre, Nathalie Sturm, Michaela Luconi, Franco Mantero, Massimo Mannelli, Regis Cohen, Véronique Kerlan, Philippe Touraine, Gaelle Barrande, Lionel Groussin, Xavier Bertagna, Eric Baudin, Laurence Amar, Felix Beuschlein, Eric Clauser, Joel Coste, Jérôme Bertherat
CONTEXT: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous outcome. Prognostic stratification is difficult even based on tumor stage and Ki67 index. Recently integrated genomics studies have demonstrated that CpG islands hypermethylation is correlated with poor survival. OBJECTIVE: To confirm the prognostic value of CpG islands methylation on an independent cohort with a single commonly available methylation assay. DESIGN: CpG islands methylation was measured by methylation-specific-multiplex-ligation-dependent-probe-amplification (MS-MLPA) using the ME002 kit (MRC-Holland)...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27966779/serum-levels-of-timp-3-lipc-ier3-and-slc16a8-in-cfh-negative-amd-cases
#20
Kaushal Sharma, Rahul Tyagi, Ramandeep Singh, Suresh Kumar Sharma, Akshay Anand
AMD is a complex eye disease predominantly occurring in aged population. Till now about 53 genetic loci have been found to be associated with the AMD pathology. AMD pathogenesis is being increasingly known to progress through mechanisms independent of the CFH dependent pathway. Therefore, our aim for current study was to examine the genes by analyzing their expression levels in AMD. We recruited about 50 AMD and same number of age matched controls. We analysed the CFH duplication and deletion by multiplex ligation probe amplification (MLPA) and found no duplication and deletion in CFH gene in AMD patients...
December 14, 2016: Journal of Cellular Biochemistry
keyword
keyword
40098
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"