| Objective: Polycystic ovary syndrome (PCOS) is one of the most common clinical syndromes, induced by the abnormal regulation of menstruation, which is regarded as the most important cause of anovulational infertility of bearing-aged women. Current genetics studys show that the pathogenesis of PCOS is related to some autocrine and paracrine gene mutations. At the same time, the nosogenesis of PCOS is not completely uniform on the basis of the high heterogeneity of this disease and the difference between different geographical environments and races.Follicle stimulating hormone (FSH) is the most significant hormone in the processs of folliclegenesis, because it is related to the maturation of follicles and the secreation of sexual hormones. The function of FSH is mediated through its receptor (FSH-R), that belongs to the superfamily of G-protein coupled receptors, which locates on the membrane of granulosa cells. The deficiency of FSH-R gene has influence on the folliclegenesis and ovarian function.Five inactivating mutations of the FSH receptor (FSH-R) are known to cause ovarian failure with amenorrhea and infertility, which are Ilel61Thr (exon6 T497C), Alal89Val (exon7 T566C), Asp224Val (exon 9A 671T), Arg573Cys (exon 10A C1717T) and Leu601Val (exon 10B C1801G). We regard the FSH-R gene as the candidate gene to explore the relationship between the gene mutations which happen in the 7 10(A) exons of FSH-R gene of the Han nationality women of Hubei province of China and the occurrence of PCOS.Methods: Patient group: 56 cases of PCOS patient from the reproduction medicine center of the Renmin hospital of Wuhan university between Feb, 2003 and July, 2003 were studied. Control group: The control group was recriuted from the same time out-patients of the same center. They had normal menstruation cycles, and had not family histories of heart disease and diabetes. The two groups were all from the Han nationality population of Hubei province of China, and had the same conditions of age and marriage.The basal hormone levels of both PCOS patients and controls were examined .The peripheral blood DNA genomes from healthy volunteers (38 cases) and PCOS patients (56 cases) were extracted. The methods of PCR and RFLP were applied to detect the gene mutations of the exons. The distribution of gene type and the frequence of allele of these two groups were compared. The relationships between the frequence of allele andiiithe abnormal gonadotropine level, hyperandrogenism were analysised.Result: There were two genetypes which were 49/49, 86/49 and 128/128,216/128 within the exon 7,10 (A) of FSH-R gene of PCOS patients and controls. The frequences of 49/49, 86/49, 128/128 and 216/128 genetype were 96.43%, 3.57%, 98.21% and 1.79% respectively of the PCOS patients, which had no significant difference compared with the control group.(P>0.05). The homozygous mutations of exon 7,10 (A) were not found in both patients and controls. The frequences of 49, 86, 128, 216 alleles of patients were 98.21%, 1.79%, 99.11% and 0.89% respectively, which had no significant difference compared with the control group (P>0.05).There were 54 cases of 49/49 gene type and 2 cases of 86/49 gene type of the PCOS patients. Both of the two PCOS patients of 86/49 gene type had normal gonadotropine level (LH/FSH<2) and were hyperandrogenisms. There were 55 cases of 128/128 gene type and 1 case of 216/128 gene type of the PCOS patients. This 86/49 gene-type PCOS patient had abnormal gonadotropine level (LH/FSH 2) and was hyperandrogenism.Conclusion: The gene mutations of the two alleles exist in this studied PCOS women. The mutation frequence of PCOS group has no statistic difference compared with the control group. There would be a certain corelation between the LH /FSH ratio, hyperandrogenism and the 86,216 allele in the PCOS group. It appears from this study that mutations in the coding regions of FSH-R gene are not a causative factor of the above clinical manifestations in the Han nationality women. |
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