In couples diagnosed of infertility polymorfic variant accepted evaluation of chromosome changes
2022
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Advisor: Prof. Dr. Mustafa Yıldız ; Prof. Dr. Saliha Handan Yıldız
Abstract (EN)
Infertility is a disease defined as the deterioration of a person's reproductive capacity. It is known that there is a genetic factor in the pathogenesis of infertility. At this point, the relationship between chromosomal polymorphisms and infertility is still controversial. Therefore, in the present study, the data of 391 cases, 178 female and 213 male, who were diagnosed with infertility and underwent karyotype analysis, were evaluated retrospectively in terms of chromosomal polymorphisms. Forty couples, known as the control group, who did not have any hereditary disease, did not have consanguineous marriages, could have healthy children, and did not have a history of miscarriage and/or stillbirth, were evaluated in terms of cytogenetics. The karyotype samples from the archive files and the preparations in the preparation archive were evaluated for the chromosome polymorphisms of the case group. Closed lymphocyte culture was made from the blood samples of the control group and the karyotypes in the chromosome preparations obtained were analyzed. In this study, total satellite polymorphisms (13 ps+, 14 ps+, 15 ps+, 21 ps+ and 22 ps+) were found to be significantly higher in the female case group than in the control. No gender-related differences were detected in the distributions of 1qh+, 9qh-, inv(9), 13ps+, 14ps+, 15ps+, 16qh+, 21ps+, 22ps+ polymorphisms in the cases (178 female, 213 male). The most common 9qh+ (14.04%) variant was found in infertile women. In the case group (391 individuals), 9qh+ polymorphism was seen in 40 (10.23%). Although this rate was higher than the control group, this difference was found to be statistically insignificant. In this context, it has been observed that it is extremely important to have a large sample size and to choose homogeneous sample groups in order to more clearly demonstrate the existence of the relationship between infertility and chromosomal polymorphisms.
Author
Dr. Yakup Melik Şener
Institution
How to Cite
Yakup Melik Şener (Master Thesis). In couples diagnosed of infertility polymorfic variant accepted evaluation of chromosome changes, 2022, Afyon Kocatepe University.
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