| Literature DB >> 18056001 |
Licínio Manco1, Paula Gonçalves, Patrícia Antunes, Filomena Maduro, Augusto Abade, M Letícia Ribeiro.
Abstract
G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/PstI/BclI/NlaIII) and a (CTT)(n) microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-(376G/202A) variants (44/45) have a single haplotype (+/+/-/+/-/+/195). G6PD Betica(376G/968C) alleles (n=10) have a single RFLP haplotype (+/-/-/+/-/+) and 4 different (CTT)(n) repeats. Age estimates based on microsatellite variation suggest that Betica mutation arose 900 generations ago. G6PD SantaMaria(376G/542T) allele was found on haplotype (+/-/-/+/-/+/201) and 10 G6PD variants on RFLP haplotypes (-/-/+/+/-/-), (-/-/+/+/-/+) and (-/-/+/+/+/+).Entities:
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Year: 2007 PMID： 18056001 DOI： 10.3324/haematol.11670
Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941