Mj. Sampson et al., Prevalence of HFE (hemochromatosis gene) mutations in unselected male patients with type 2 diabetes, J LA CL MED, 135(2), 2000, pp. 170-173
Citations number
27
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research General Topics
To assess the prevalence of mutations in the HFE (hemochromatosis) gene in
unselected male patients with type 2 diabetes, we examined 220 white men wi
thout known diabetes and 220 age-matched white men with type 2 diabetes for
mutations in the HFE gene. Nucleotide 845 (C282Y) and 187 (H63D) alleles w
ere amplified by polymerase chain reaction (PCR) with lymphocyte DNA, The P
CR products were analyzed by restriction enzyme digestion. One of the 220 p
atients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y) mutat
ion and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%
) were compound heterozygotes also carrying the HFE 187G (H63D) mutation, T
hese frequencies did not differ significantly from the control population w
ithout diabetes. There is no evidence that HFE mutations are found in exces
s in unselected male patients with type 2 diabetes, and there is no indicat
ion for a population-based search for an excess of these alleles in type 2
diabetes.