MOLECULAR SPECTRUM OF β-THALASSEMIA MUTATIONS IN THE ADMIXED VENEZUELAN POPULATION, AND THEIR LINKAGE TO β-GLOBIN GENE HAPLOTYPES. Bravo-Urquiola, M., Martha Bravo-Urquiola, Bravo-Urquiola, M., Anabel Arends, Arends, A., Arends, A., Gómez, G., Montilla, S., Gérard, N., Chacín, M., Berbar, T., García, O., García, G., Velasquez, D., Castillo, O., & Krishnamoorthy, R. Hemoglobin, 36(3):209–218, May, 2012. MAG ID: 2133098682doi abstract bibtex In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations. Fifteen different mutations were identified accounting for 92.0% of the mutant alleles explored, revealing a significant genetic heterogeneity at the β-globin gene locus in this population. The most frequent mutations were codon 39 (C \textgreaterT) 34.1%, IVS-I-1 (G \textgreaterA) 11.1%, IVS-I-6 (T \textgreater C) 6.6%, IVS-I-110 (G \textgreaterA) 6.6%, IVS-II-849 (A \textgreaterG) 6.6%, −88 (C \textgreaterT) 6.0%, −29 (A \textgreaterG) 5.2%, followed by the less common IVS-I-5 (G \textgreaterA) 3.7%, the 1,393 bp deletion 3.0%, IVS-II-1 (G \textgreaterA) 3.0%, −86 (C \textgreaterG) 2.2%, IVS-II-...
@article{bravo-urquiola_molecular_2012,
title = {{MOLECULAR} {SPECTRUM} {OF} β-{THALASSEMIA} {MUTATIONS} {IN} {THE} {ADMIXED} {VENEZUELAN} {POPULATION}, {AND} {THEIR} {LINKAGE} {TO} β-{GLOBIN} {GENE} {HAPLOTYPES}},
volume = {36},
doi = {10.3109/03630269.2012.674997},
abstract = {In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations. Fifteen different mutations were identified accounting for 92.0\% of the mutant alleles explored, revealing a significant genetic heterogeneity at the β-globin gene locus in this population. The most frequent mutations were codon 39 (C {\textgreater}T) 34.1\%, IVS-I-1 (G {\textgreater}A) 11.1\%, IVS-I-6 (T {\textgreater} C) 6.6\%, IVS-I-110 (G {\textgreater}A) 6.6\%, IVS-II-849 (A {\textgreater}G) 6.6\%, −88 (C {\textgreater}T) 6.0\%, −29 (A {\textgreater}G) 5.2\%, followed by the less common IVS-I-5 (G {\textgreater}A) 3.7\%, the 1,393 bp deletion 3.0\%, IVS-II-1 (G {\textgreater}A) 3.0\%, −86 (C {\textgreater}G) 2.2\%, IVS-II-...},
number = {3},
journal = {Hemoglobin},
author = {Bravo-Urquiola, Martha and {Martha Bravo-Urquiola} and Bravo-Urquiola, Martha and {Anabel Arends} and Arends, Anabel and Arends, Anabel and Gómez, Gilberto and Montilla, Silvia and Gérard, Nathalie and Chacín, Marycarmen and Berbar, Tsouria and García, Odalis and García, Gloria and Velasquez, Dalia and Castillo, Omar and Krishnamoorthy, Rajagopal},
month = may,
year = {2012},
doi = {10.3109/03630269.2012.674997},
pmid = {22563936},
note = {MAG ID: 2133098682},
pages = {209--218},
}
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DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations. Fifteen different mutations were identified accounting for 92.0% of the mutant alleles explored, revealing a significant genetic heterogeneity at the β-globin gene locus in this population. The most frequent mutations were codon 39 (C \\textgreaterT) 34.1%, IVS-I-1 (G \\textgreaterA) 11.1%, IVS-I-6 (T \\textgreater C) 6.6%, IVS-I-110 (G \\textgreaterA) 6.6%, IVS-II-849 (A \\textgreaterG) 6.6%, −88 (C \\textgreaterT) 6.0%, −29 (A \\textgreaterG) 5.2%, followed by the less common IVS-I-5 (G \\textgreaterA) 3.7%, the 1,393 bp deletion 3.0%, IVS-II-1 (G \\textgreaterA) 3.0%, −86 (C \\textgreaterG) 2.2%, IVS-II-...","number":"3","journal":"Hemoglobin","author":[{"propositions":[],"lastnames":["Bravo-Urquiola"],"firstnames":["Martha"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Martha Bravo-Urquiola"],"suffixes":[]},{"propositions":[],"lastnames":["Bravo-Urquiola"],"firstnames":["Martha"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Anabel Arends"],"suffixes":[]},{"propositions":[],"lastnames":["Arends"],"firstnames":["Anabel"],"suffixes":[]},{"propositions":[],"lastnames":["Arends"],"firstnames":["Anabel"],"suffixes":[]},{"propositions":[],"lastnames":["Gómez"],"firstnames":["Gilberto"],"suffixes":[]},{"propositions":[],"lastnames":["Montilla"],"firstnames":["Silvia"],"suffixes":[]},{"propositions":[],"lastnames":["Gérard"],"firstnames":["Nathalie"],"suffixes":[]},{"propositions":[],"lastnames":["Chacín"],"firstnames":["Marycarmen"],"suffixes":[]},{"propositions":[],"lastnames":["Berbar"],"firstnames":["Tsouria"],"suffixes":[]},{"propositions":[],"lastnames":["García"],"firstnames":["Odalis"],"suffixes":[]},{"propositions":[],"lastnames":["García"],"firstnames":["Gloria"],"suffixes":[]},{"propositions":[],"lastnames":["Velasquez"],"firstnames":["Dalia"],"suffixes":[]},{"propositions":[],"lastnames":["Castillo"],"firstnames":["Omar"],"suffixes":[]},{"propositions":[],"lastnames":["Krishnamoorthy"],"firstnames":["Rajagopal"],"suffixes":[]}],"month":"May","year":"2012","pmid":"22563936","note":"MAG ID: 2133098682","pages":"209–218","bibtex":"@article{bravo-urquiola_molecular_2012,\n\ttitle = {{MOLECULAR} {SPECTRUM} {OF} β-{THALASSEMIA} {MUTATIONS} {IN} {THE} {ADMIXED} {VENEZUELAN} {POPULATION}, {AND} {THEIR} {LINKAGE} {TO} β-{GLOBIN} {GENE} {HAPLOTYPES}},\n\tvolume = {36},\n\tdoi = {10.3109/03630269.2012.674997},\n\tabstract = {In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations. Fifteen different mutations were identified accounting for 92.0\\% of the mutant alleles explored, revealing a significant genetic heterogeneity at the β-globin gene locus in this population. The most frequent mutations were codon 39 (C {\\textgreater}T) 34.1\\%, IVS-I-1 (G {\\textgreater}A) 11.1\\%, IVS-I-6 (T {\\textgreater} C) 6.6\\%, IVS-I-110 (G {\\textgreater}A) 6.6\\%, IVS-II-849 (A {\\textgreater}G) 6.6\\%, −88 (C {\\textgreater}T) 6.0\\%, −29 (A {\\textgreater}G) 5.2\\%, followed by the less common IVS-I-5 (G {\\textgreater}A) 3.7\\%, the 1,393 bp deletion 3.0\\%, IVS-II-1 (G {\\textgreater}A) 3.0\\%, −86 (C {\\textgreater}G) 2.2\\%, IVS-II-...},\n\tnumber = {3},\n\tjournal = {Hemoglobin},\n\tauthor = {Bravo-Urquiola, Martha and {Martha Bravo-Urquiola} and Bravo-Urquiola, Martha and {Anabel Arends} and Arends, Anabel and Arends, Anabel and Gómez, Gilberto and Montilla, Silvia and Gérard, Nathalie and Chacín, Marycarmen and Berbar, Tsouria and García, Odalis and García, Gloria and Velasquez, Dalia and Castillo, Omar and Krishnamoorthy, Rajagopal},\n\tmonth = may,\n\tyear = {2012},\n\tdoi = {10.3109/03630269.2012.674997},\n\tpmid = {22563936},\n\tnote = {MAG ID: 2133098682},\n\tpages = {209--218},\n}\n\n\n\n","author_short":["Bravo-Urquiola, M.","Martha Bravo-Urquiola","Bravo-Urquiola, M.","Anabel Arends","Arends, A.","Arends, A.","Gómez, G.","Montilla, S.","Gérard, N.","Chacín, M.","Berbar, T.","García, O.","García, G.","Velasquez, D.","Castillo, O.","Krishnamoorthy, R."],"key":"bravo-urquiola_molecular_2012","id":"bravo-urquiola_molecular_2012","bibbaseid":"bravourquiola-marthabravourquiola-bravourquiola-anabelarends-arends-arends-gmez-montilla-etal-molecularspectrumofthalassemiamutationsintheadmixedvenezuelanpopulationandtheirlinkagetoglobingenehaplotypes-2012","role":"author","urls":{},"metadata":{"authorlinks":{}},"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["molecular","spectrum","thalassemia","mutations","admixed","venezuelan","population","linkage","globin","gene","haplotypes","bravo-urquiola","martha bravo-urquiola","bravo-urquiola","anabel arends","arends","arends","gómez","montilla","gérard","chacín","berbar","garcía","garcía","velasquez","castillo","krishnamoorthy"],"title":"MOLECULAR SPECTRUM OF β-THALASSEMIA MUTATIONS IN THE ADMIXED VENEZUELAN POPULATION, AND THEIR LINKAGE TO β-GLOBIN GENE HAPLOTYPES","year":2012}