Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles.
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 (-/-/+/+/+/+).
Departamento de Hematologia, Centro Hospitalar de Coimbra, Portugal.
Licínio
L
Manco
Paula
P
Gonçalves
Patrícia
P
Antunes
Filomena
F
Maduro
Augusto
A
Abade
M Letícia
ML
Ribeiro
D000483:Alleles; D019143:Evolution, Molecular; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011174:Portugal
D005954:Glucosephosphate Dehydrogenase; C482910:glucose-6-phosphate dehydrogenase A-