57º Congresso Brasileiro de Genética
Resumos do 57º Congresso Brasileiro de Genética • 30 de agosto a 2 de setembro de 2011
Centro de Convenções do Hotel Monte Real Resort • Águas de Lindóia • SP • Brasil
www.sbg.org.br - ISBN 978-85-89109-06-2
187
Determination of Sickle Cell Anemia
Prevalence in the City of Jataí, Goiás State,
Brazil, by using Molecular Techniques
Silveira, DF1; Silva, MFL1; Dias, GB1; dos Santos, WG1
1 Universidade Federal de Goiás – Campus Jataí, UFG-CAJ Rod Br 364 Km 192 – Setor Parque Industrial n0 3800 Cx.
Postal 03 – CEP 75800 -000 – Jataí – GO – Brasil Fone/Fax.: 64-632 1510 – Home Page: http//www.jatai.ufg.br
danielferreirasilveira@yahoo,com.br
Keywords: Sickle cell anemia, Hemoglobinopathies, PCR-RFLP molecular techniques, Prevalence
Sickle Cell Disease (SCD) belongs to a group of hemoglobin genetic disorders resulting from changes in the structure or synthesis of the subunits of hemoglobin due to mutations in their genes. Normal hemoglobin consists of
four subunits of polypeptidic chains: two alfa globin chains and two beta globin chains. In sickle cell hemoglobin the
two alpha chains are normal; however a mutation in the 6th position in the two beta chains, referred as “S” chains,
leads to a specific amino acid substitution responsible for the pathology of disease. The aim of this study was to
determine the prevalence of abnormal hemoglobin S in individuals living in the city of Jataí, Goias state, Brazil
by using the molecular technique Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCRRFLP). To detect changes in the structure of the beta globin gene, a set of specific primers for β-globin chain (pFβ
5’TGATGGTATGGGGCCAAGAG-3 ‘and pRβ 5’GTGCCCTTGAGGTTG TCCAG-3’) was used to amplify a gene
region of 648 base pairs and the PCR products digested by the restriction enzyme DdeI to cleave the amplicons in their
specific restriction sites and differentiate normal and mutated hemoglobin. Eigth (3%) out of 254 individuals analysed
showed abnormalities in the structure of the β globin gene by PCR-RFLP. Six (2.36%) were confirmed by gel electrophoresis in phosphate agar, pH 6.2. The results show that molecular techniques, such as the one used in this work can be
applied in studies of the prevalence of sickle cell disease in the population of Goiás. This technique can be an alternative
to the use of more expensive approaches such as High Performance Liquid Chromatography (HPLC). The results of
this work may be useful for a broader study aiming at identifying new hemoglobin variants in the population of Jataí.
Supported by UFG