Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.
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.
Lukac Bajalo
Jana
J
Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia. jana.bajalo@ffa.uni-lj.si
Mencej
Simona
S
Karas
Natasa
N
Mlinar
Barbara
B
Zitnik
Irena Prodan
IP
Gersak
Ksenija
K
D000328:Adult; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase