Analise molecular do gene RHCE e suas variantes na população brasileira

AUTOR(ES)
DATA DE PUBLICAÇÃO

2005

RESUMO

Rh is a highly complex red cell blood group system, consisting of 48 antigens. The RH locus is composed of two highly homologous genes, the RHD gene, which encodes for the D protein and the RHCE alleles have been characterized: ce, Ce, CE and cE. Six nucleotide (nt) substitutions within exons 1 and 2 have been reported to determine C/c polymorphism at caused by a single nt substitution (C/G), resulting in a Pro/Ala amino acid exchange at position 226. a plethora of RHCE variants have been identified at molecular level, although the requirements for expression of the RhCE antigens are not fully understood. There are few studies of the RHCE gene and these variants in the Brazilian population and little is known about them in such population. Based on this knowledge, the purpose of this study was to investigate the presence of the RHCE alleles and their frequencies, to establish protocols for RHCE genotyping andT to identify at molecular level RHCE variants responsible for weak expression of the RhCE antigens in the Brazilian population. Blood and DNA sample from 358 blood donors were tested for RH Cc by two different techniques (one multiplex PCR one PCR-RFLP) and for RH Ee for a PCR-RFLP technique... Note: The complete abstract is available with the full electronic digital thesis or dissertations.

ASSUNTO(S)

genetica de populações antigenos imunoglobulinas

ACESSO AO ARTIGO

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