Identificação de mutações estruturais e talassemicas nos genes da globina alfa

AUTOR(ES)
DATA DE PUBLICAÇÃO

2000

RESUMO

In order to identify the α-globin gene mutations present in the population of southeastern Brazil, 7 unrelated Hb H disease patients and 27 individuals with α-chain structural alterations were studied. Methodology involved PCR, restriction enzyme analyses and DNA direct sequencing. Among the Hb H patients, all Caucasians, 2 showed the -(α)20.5/ -α3.7 genotype, 1 the --MED/-α3.7, 1 the --MED/α Hphα, and 3 the interaction of the - α3.7 deletion with an unusual α-thalassemia, non-deletional [-α3.7/(αα)T]. The structural alterations were the Hbs Hasharon (α47AspαHis) (15 Caucasians), J-Rovigo (α53AlaαAsp) (4 Caucasians), Stanleyville-II (α78AsnαLys) (3 Blacks and 1 Caucasian), G-Pest (α74AspαAsn) (1 Black), Kurosaki (α7LysαGlu) (1 Caucasian), Westmead (αl22HisαGln) (1 Caucasian) and Campinas (α26AlaαVal) (1 Caucasian), a variant not previously described. The Hbs Hasharon and Stanleyville-II were found in association with the -α 3 .7 deletion The molecular bases of Hbs J-Rovigo, Stanleyville-II, G-Pest and Kurosaki were determined (GCCαGAC, AACαAAA, GACαAAC, AAGαGAG, respectively). Although hemoglobinopathies are frequent in Brazil, very little is known about the α-globin gene alterations. The deletions and the most prevalent structural alterations found here reflect the Italian and African contribution to the population of this region of Brazil and indicate the presence of non-deletional α thalassemia, as well as rare variants.

ASSUNTO(S)

talassemia hemoglobinopatia sangue - doenças

ACESSO AO ARTIGO

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