ABSTRACT
Objective: ovarian reserve is defined as the capacity of the ovary to provide fertile oocytes. Diminished ovarian reserve [DOR] is a disorder in which ovaries are prone to go through early menopause. Where this loss of function occurs before the age of 40, it results in the premature ovarian failure [POF] disease. Throughout folliculogenesis, the follicle-stimulating hormone receptor [FSHR] starts a signaling cascade in the granulosa cells where its inactivation leads to the arrest of follicle maturation and therefore adversely affects ovarian reserve. The aim of this study was to investigate the association of genetic variation [polymorphisms and inactivating mutations] of FSHR with POF and DOR
Materials and Methods: this case-control study comprised 84 POF, 52 DOR and 80 fertile Iranian women. To determine the presence of the 566C>T mutation and the -29G>A polymorphism in FSHR, PCR-RFLP method was used. SSCP-sequencing was used to identify any allelic variants in exon 10. The expression of human FSHR at the transcript level was also compared between DOR and fertile controls by real time-polymerase chain reaction [PCR]
Results: the 566C>T polymorphism was normal in all the cases. All genotypes of -29G>A and 919G>A [exon 10] polymorphisms were observed. Statistically significant differences were seen in the genotypic distribution of both polymorphisms when comparing the control group with the DOR patient group. A decrease was observed in FSHR expression of DOR patients compared with the control group but was not significant
Conclusion: we conclude that the -29G>A and 919G>A polymorphisms in FSHR may be associated with DOR. Although these polymorphisms had significant differences at the genic level, no significant variation was found at the transcript level
ABSTRACT
Background: To verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. The availability of the umbilical cord blood encouraged us to study this hypothesis via this method
Materials and Methods: This is a descriptive study, umbilical cord blood samples of assisted reproductive technology [ART] children were analyzed with standard cytogenetic techniques [G banding]. Karyotyping was possible in 109 cases
Results: The number of abnormal cases was four [3.7%], among which, three cases [2.8%] were inherited and only 1 case [0.9%] was a de novo translocation. In total, the incidence of de novo chromosomal abnormalities was in the range observed in all live births in the general population [0.7-1%]
Conclusion: No significant difference in the incidence of chromosomal abnormality was found between ART and naturally conceived babies. To date, several studies have examined the medical and developmental outcome of ART children and still have not reached a definite conclusion. Genetic counseling is recommended as an integral part of planning of treatment strategies for couples wishing to undergo ART
ABSTRACT
Experiments were conducted to find the differences between post-thaw viability and chromosome aberrations in eight-cell mouse embryos at presence of dimethyl sulfoxide [DMSO] and 1, 2-propanediol [PROH] as croprotectants in different storage durations. In this case-control study, a total number of 720 mouse embryos from about 250 NMRI mice were vitrified with 30% PROH or DMSO; each diluted with a solution containing 30% ficol plus 0.5 M sucrose. Embryos were exposed to the solutions for 0.5 minute at 25[degree sign] followed by cooling in liquid nitrogen, then after appropriate storage duration, they were rapidly warmed. Besides, there were 100 mouse embryos for each cryoprotectant group [totally 200 embryos] as control. Embryo survival was assessed by in vitro development, and chromosome abnormalities were analyzed by Giemsa staining. The proportion of mitotic abnormalities in PROH/DMSO vitrified embryos was significantly higher than unfrozen control group. This was confirmed also by a reduced viability of the embryos as judged by a culture at the blastocyst stage [p<0.05 in all test groups]. It can be deduced that long term cryopreservation may result in chromosomal abnormalities and/or low viability