Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population

Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population

Show other versions (1)

Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare an...

Full description

Bibliographic Details
Main Authors:	C.N. Suemasu, E.M. Kimura, D.M. Oliveira, M.A.C. Bezerra, A.S. Araújo, F.F. Costa, M.F. Sonati
Format:	Article
Language:	English
Published:	Associação Brasileira de Divulgação Científica 2011-01-01
Series:	Brazilian Journal of Medical and Biological Research
Subjects:	Alpha-thalassemia Hb H disease Multiplex ligation-dependent probe amplification Genetic polymorphisms Brazilian population
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000100003

Similar Items

Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
by: C.N. Suemasu, et al.
Published: (2011-01-01)

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
by: Natália O. Mota, et al.
Published: (2017-10-01)

Multiplex Ligation-Dependent Probe Amplification for Simultaneous Detection of Six Allergenic Ingredients in Foods
by: WANG Mingqiu, LIU Yan, LI Shiyao, DONG Wanting, ZHANG Tao, LIN Jin, ZHU Biting, ZHANG Li
Published: (2023-02-01)

Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy
by: Kushal Shrestha, et al.
Published: (2016-12-01)

Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report
by: Chih-Hsuan Fu, et al.
Published: (2015-08-01)

Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect
by: Crauciuc George Andrei, et al.
Published: (2018-10-01)

Characterization of two children with tetrasomy 18p syndrome through multiplex ligation-dependent probe amplification and single nucleotide polymorphism-array: expanding phenotype?
by: Jaime Toral-López, et al.
Published: (2021-01-01)

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization
by: Wen-Xu Yang, et al.
Published: (2016-01-01)

Comparison of multiplex ligation-dependent probe amplification and real-time PCR accuracy for gene copy number quantification using the β-defensin locus
by: Andrea Perne, et al.
Published: (2009-12-01)

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients
by: Li Wang, et al.
Published: (2024-10-01)

Multiplex Ligation-Dependent Probe Amplification for Simultaneous Identification of Bungarus multicinctus and Its Common Adulterants in a Single Assay
by: Yuxin Zhou, et al.
Published: (2020-04-01)

Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
by: Seda Kanmaz, et al.
Published: (2019-06-01)

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
by: Dongsook Lee, et al.
Published: (2019-02-01)

Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma
by: Nguyen Cong Kiet, et al.
Published: (2019-04-01)

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing
by: Todorova A, et al.
Published: (2009-01-01)

Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
by: Yu-Rong Lee, et al.
Published: (2022-04-01)

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population
by: M.R.S.C. Wenning, et al.
Published: (2000-09-01)

Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome
by: Wen-Xu Yang, et al.
Published: (2016-02-01)

Rapid Identification of Key Copy Number Alterations in B- and T-Cell Acute Lymphoblastic Leukemia by Digital Multiplex Ligation-Dependent Probe Amplification
by: Deepshi Thakral, et al.
Published: (2019-09-01)

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing
by: Dong Wang, et al.
Published: (2019-07-01)

LAMPS: an analysis pipeline for sequence-specific ligation-mediated amplification reads
by: Christopher J. F. Cameron, et al.
Published: (2020-06-01)

Deletion Mutations in an Australian Series of HNPCC Patients
by: McPhillips Mary, et al.
Published: (2005-11-01)

High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia
by: E. Borges, et al.
Published: (2001-06-01)

Alterations of Copy Number of Methylation Pattern in Mismatch Repair Genes by Methylation Specific-Multiplex Ligation-Dependent Probe Amplification in Cases of Colon Cancer
by: Onrat S, et al.
Published: (2011-01-01)

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia
by: Min-Yu Lan, et al.
Published: (2012-07-01)

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
by: Yiming Lin, et al.
Published: (2018-01-01)

Multiplex ligation reaction based on probe melting curve analysis: a pragmatic approach for the identification of 30 common Salmonella serovars
by: Le Zuo, et al.
Published: (2019-12-01)

Corrigendum: Methylation Statuses of H19DMR and KvDMR at WT2 in Wilms Tumors in Taiwan
by: Meng-Yao Lu, et al.
Published: (2022-08-01)

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease
by: Minh Duc Do, et al.
Published: (2023-04-01)

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency
by: Sudhisha Dubey, et al.
Published: (2022-01-01)

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review
by: Babameto-Laku A., et al.
Published: (2012-12-01)

Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families
by: Maryam Sedghi, et al.
Published: (2016-01-01)

Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India
by: Mehta A, et al.
Published: (2018-11-01)

Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and <FONT FACE=Symbol>aaa</FONT>anti-3.7/<FONT FACE=Symbol>aa</FONT> genotype in a Brazilian patient
by: E.M. Kimura, et al.
Published: (2003-06-01)

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism
by: Ja Hye Kim, et al.
Published: (2023-04-01)

Novel method for the genomic analysis of PKD1 mutation in autosomal dominant polycystic kidney disease
by: Shunlai Shang, et al.
Published: (2023-01-01)

Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease
by: Trung‐Hieu Nguyen‐Le, et al.
Published: (2022-09-01)

Investigation of Chromosomal Abnormalities and Microdeletion/Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
by: Akbar Mohammadzadeh, et al.
Published: (2019-06-01)

Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil
by: Elza M. Kimura, et al.
Published: (2009-01-01)

Hb H disease resulting from the association of an αº-thalassemia allele [-(α)20.5] with an unstable α-globin variant [Hb Icaria]: first report on the occurrence in Brazil
by: Elza M. Kimura, et al.
Published: (2009-01-01)