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Type: Artigo de periódico
Title: Dnaase I Hypersensitive Site 3' To The Beta-globin Gene Cluster Contains A Taa Insertion Specific For Beta(s)-benin Haplotype.
Author: Bordin, Silvana
Crespi, Vanessa G
Duarte, Adriana S S
Bassères, Daniela S
Melo, Mônica B
Vieira, Alexandra P Zilli
Saad, Sara T O
Costa, Fernando F
Abstract: Analysis of DNA polymorphic sites is a powerful tool for detection of gene flow in human evolutionary studies and to trace genetic background associated with abnormal genes. The beta-globin locus contains more than 20 single-base restriction fragment length polymorphism (RFLP) sites spanning over 80 kb on chromosome 11. Far downstream of the expressed genes, there is a hypersensitive site (HS). The function of the 3'-HS remains unknown. As an approach to the understanding of the 3'-HS region in sickle cell anemia we searched for sequence polymorphism in the AT-rich region, using a non-radioactive polymerase chain reaction (PCR)-single strand conformational polymorphism (SSCP) technique. A 460 bp fragment located at the 3' of the b globin gene was amplified from patients (with sickle cell anemia and HbSC disease), and from AS individuals. Standard RFLP-haplotyping was performed and compared with the PCR-SSCP screening strategy. Two distinct band patterns were revealed by SSCP testing, each one in strict linkage disequilibrium with either Benin or Bantu haplotypes. Direct sequencing of the amplified segment revealed a TAA insertion in the AT-rich region, in all 121 beta(S) Benin chromosomes tested, but not in other beta(S) haplotypes from the total of 380 beta(S) chromosomes typed. SSCP analysis could easily distinguish sequence variations in the 3'AT-rich region of the beta-globin cluster, and a TAA insertion in this region seems to be specific for the Benin-beta(S) chromosome.
Subject: At Rich Sequence
Anemia, Sickle Cell
Base Sequence
Binding Sites
Deoxyribonuclease I
Genetic Variation
Mutagenesis, Insertional
Polymorphism, Genetic
Polymorphism, Single-stranded Conformational
Citation: Haematologica. v. 87, n. 3, p. 246-9, 2002-Mar.
Rights: aberto
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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