Factor Analysis On Male Infertility And Investigation Of Association Between Rs4988321 And Rs11607268 Locus Of Gene LRP-5 And PCOS

Chapter 1 Factor analysis on male infertility causesInfertility has now become an important medical and social problem. According to the WHO estimation, about 10% to 15% couples in reproductive age face the problem of reproduction declination. Accordingly, infertility, cardiovascular diseases and tumor had been listed as three main diseases which influenced human life and healthy deeply. Accompany with social developing, the changing on the circumstance, habits and customs, the alternation on sex and reproduction conception and the development of the medical diagnostic technique, the occurrence and composition of the infertility were changing. Therefore, it is necessary to conduct analysis and summary on the causes of infertility continuously, so as to give reference to clinical diagnosis, treatment and strategy of etiology study.Objective Analysis of male factors in infertility.Materials and method The clinical data of 3777 couples' were collected which were diagnosed as infertility in Reproduction and Genetic Hospital of CITIC-Xiangya out-patient during November.2005 to April.2006. The basic information of each case was recorded, including basic medical record and clinical data concerning infertility and sterility. Data of infertile men was recorded detailed, including male physical examination, semen analysis, biopsy and genetic tests. Statistic study had done on the male infertility factors and its composition. Genetic analysis was also carried out to male infertility, combined with literatures.Results1. Basic composition of infertility factors: Out of 3777 couples, there were 2161 primary infertility patients, occupied 57.21% of all, while 1616 secondary infertility patients, occupied 42.79%. Female factor, male factor, bilateral factor and ambiguous factor accounted for 49.62%, 37.22%, 9.88% and 3.28% respectively.2. Semen analysis result: Azoospermia, oligazoospermia and severe oligazoospermia patients accounted for 57.99% and 37.34% of dysspermatism patients respectively. Azoospermia, especially dysspermatogenesis patients occupied the overwhelming majority.3. Cytogenetic analysis: 47 cases were found abnormal karyotype in 189 cases of azoospermia, severe oligazoospermia and unexplained male infertility patients, accounting for 24.87%. Out of 47 cases of chromosome aberrance, the rate of numerical abnormality and structural abnormality was 34.04% (16/47) and 65.96% (31/47). The numerical abnormalities cases were all sex chromosome aberrations. The structural abnormalities cases contained translocation, inversion, deletion,complex mutation and sex reversal, which involved in seventeen euchromosome and Y chromosome. Through literature retrieval, about 76.47% of the detected chromosomes were found to be involved in the reports of same chromosomes numerical and structural abnormalities.4. Molecular genetic analysis: Out of 70 cases of azoospermia and severe oligazoospermia patients, 10 cases were found gene deletion, accounted for 14.29%.Conclusion Male factors were an important part of infertility causes. It should be strengthened on examination and research of male infertility etiology. Reports of structural aberration of chromosomes were mostly example analysis. It is necessary to carried out further analysis to validate it.Chapter 2 Investigation of association between rs4988321 and rs11607268 locus of the gene LRP-5 and PCOSObjective To explore the association between the single nucleotide polymorphism (SNP) of the gene LRP-5 at rs4988321, rs11607268 locus and PCOS.Material and method Denaturing High Performance Liquid Chromatography (DHPLC) was used to detect the SNP of the gene LRP-5 at rs4988321 locus and rs11607268 for all 129 PCOS patients and the control group (92 healthy subjects). Comparisons were conducted in gene polymorphism between PCOS patients and control group.Results On rs4988321 locus, no unsymmetric figure was detected from all 129 PCOS samples and 92 control group. There was no statistical difference as compared with SNP of rs4988321 of LRP-5 between PCOS patients and control group. On rs11607268 locus, there were 55 cases in PCOS samples and 47 cases in control group detected unsymmetric figure. No significant statistical difference was detected between the two groups of the SNP of rs11607268 of LRP-5 gene.Conclusion rs4988321 of LRP-5 was low frequency SNP in PCOS patients and normal subjects in Hans. There was likely no significant association between the SNP of the LRP-5 gene at rs4988321 locus, rs11607268 locus and PCOS.