ASSOCIATION STUDY OF PREMATURE OVARIAN NSUFFICIENCY (POI) WITH CHROMOSOME ABNORMALITIES AND PREMUTATION OF FMR1 GENE IN WOMEN IN THE NORTHWEST OF IRAN

Main Article Content

Mohammad Khalaj Kondori
Reihaneh Amiri
Mehdi Haghi

Keywords

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Abstract

Objective: premature ovarian insufficiency (POI) is defined as the loss of ovarian function before the age of 40 and affects approximately 1 percent of women. the disorder is clinically manifested by increased levels of follicle-stimulating hormone(FSH) (>40 IU/I), decreased levels of estradiol E2 (<20 IU/I) and secondary amenorrhea lasting for at least four months in women under 40 years of age. Numerous factors are involved in recurrent miscarriages, the most important of which are genetic factors like as chromosomal abnormalities and premutation in FMR1 gene in women. The present study aimed at investigating the relationship between the women s chromosomal abnormalities and premutation of FMR1 gene in women with premature ovarian insufficiency in the northwest of Iran.


Materials and methods: in the present applied research,50 women referring for POI were subjected to cytogenetic experiments via using the high resolution of GTG banding. Analysis of fragile x premutation were also conducted on the women based on PCR method.


Results: fifty patients were included, with a median age at menopause of 29 years. 15 out of 50 studied women (30 percent) were diagnosed with chromosomal abnormalities. 6 of these abnormalities were numerical one and nine of them were structural one. Out of 50 women subjected to FMR1 gene premutation,non of them show premutation.


conclusion: The rate of chromosome abnormalities in our sample was higher than in other populations while the prevalence of FMR1 premutation was lower than in other populations.

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