To explore the association between mutations of Trp8Arg and Ile15Thr in the luteinizing hormone (LH) gene and female infertility, primary female infertility patients (n=60) and normal healthy women (n=60) were screened for mutations Trp8Arg and Ile15Thr in the LH-β subunit gene by polymerase chain reaction-restriction fragment length polymorphism, and associations were examined between the mutations and female infertility. The results showed that there were significant differences in the allele and genotype frequencies of Trp8Arg and Ile15Thr between the two groups (P<0.05). A significant difference was noted in the LH level among women with different genotypes (P<0.05), and the LH level was highest in women who were homozygous for both mutations. However, there were no significant differences in FSH level and FSH/LH ratio among subjects with different genotypes (P>0.05). In conclusion, polymorphisms of Trp8Arg and Ile15Thr in the LH-β subunit gene occur in infertile women. The polymorphisms correlate with female infertility and may be a risk factor in the pathogenesis of female infertility.

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