RESUMEN
We determined the frequency of galactose-1-phosphate uridyl transferase gene mutations: Q188R, K285N, and the Duarte allelle in 86 patients with idiopathic premature ovarian failure (POF) and 95 controls. No association of the mutations with POF was found.
Asunto(s)
Alelos , Mutación , Insuficiencia Ovárica Primaria/enzimología , Insuficiencia Ovárica Primaria/genética , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Adolescente , Adulto , Distribución de Chi-Cuadrado , Femenino , HumanosRESUMEN
In a retrospective case-control study, the frequencies of Q188R, K285N, N314D, and IVS5-24G>A mutations were determined with the use of polymerase chain reaction and restriction fragment length polymorphism in the group of infertile women and the controls. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups.
Asunto(s)
Galactosemias/genética , Infertilidad Femenina/genética , Mutación Puntual , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Adulto , Femenino , Galactosemias/complicaciones , Humanos , Infertilidad Femenina/etiología , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
Numerous mutations in the galactose-1-phosphate uridyl transferase (GALT) gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity in different populations and ethnic groups. The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population. Individuals homoallelic for Q188R have a severe phenotype with complete loss of enzyme activity. Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2). Although heterozygotes for classical galactosemia are asymptomatic at birth and Duarte galactosemia appears to be quite benign, there are some indications that these disorders can increase the risk of developing certain diseases later in life. The aim of our study was to analyze a healthy Slovenian population for the frequencies of Q188R and N314D mutations, and for the Duarte-2 indicative intronic variation IVS5-24G>A. DNA samples from 174 healthy subjects were analyzed for all three mutations by polymerase chain reaction and digestion with restriction enzymes. Allele frequencies for Q188R and N314D mutations and IVS5-24G>A intron variation were found to be 0.29%, 8.0% and 5.7%, respectively. These results correlate well with those reported for most other healthy Caucasian populations.