Balkan Journal of Medical Genetics

CHROMOSOMAL POLYMORPHISMS INVOLVED IN REPRODUCTIVE FAILURE IN THE ROMANIAN POPULATION
Mierla D1,2*, Stoian V2
*Corresponding Author: Dana Mierla MD, Department of Genetics, Faculty of Biology, University of Bucharest, Bucharest, Romania; Tel.: +40721479083; E-mail: dana_mierla@yahoo.com
page: 23

DISCUSSION

Reproductive disorders are closely associated with chromosomal polymorphisms that were considered normal for a long period of time [19]. In recent years, more and more studies have shown an increased incidence of chromosomal polymorphism variation in infertile couples [20,21]. Some studies have demonstrated that 2.0-14.0% of infertile men have constitutional chromosomal abnormalities [20,21]. Chromosomal polymorphism between the two sexes in our study group showed some differences: 72 out of 969 men (7.43%) and 50 out of 840 women (5.95%). In both male and female groups, the inversion of chromosome 9 was more frequent. The most common types of chromosomal polymorphism in human infertility include inversion of chromosome 9. The frequency of inversions in the studied group was compared with rates in the population and estimated at 1.0-2.0% [22,23]. Involvement of chromosome 9 polymorphisms in reproductive failure has been reported previously [24]. There are multiple chromosome 9 heteromorphisms that cannot be detected by GTG-banding or C-banding [25]. In our study, inversion of chromosome 9 was found in 1.32% men and 0.95% women compared with literature data; 1.52% in men [26] and 0.66% in women [22]. Despite being categorized as a minor chromosomal rearrangement that does not correlate with abnormal phenotypes, many reports in the literature raised conflicting views regarding the association with sterility and subfertility [27,28]. In our study, morphological variations of constitutive heterochromatin were frequently detected during cyto-genetic analysis. Most often, chromosomes vary in size and position of heterochromatin in the 1qh, 9qh, and 16qh regions. Although inherited variants have been reported not to be associated with any risk for phenotypic abnormalities, chromosomal heteromorphisms have been found to have a higher frequency relative to the normal population and have been regarded as abnormalities in some studies [11,17,20,21]. Recent studies suggest that classical euchromatic variants of 9qh+/12qh+ and heteromorphism on chromosome 6q may be responsible for recurrent abortions [29,30]. However, in this study we found a statistical association between some chromosomal polymorphisms, namely, inv(9), 1qh+, 9qh+, fra(17) and infertility. In our study, the frequency of 1qh+ and 9qh+ was statistically signifi-cantly increased in women with primary infertility and in men with azoospermia which was confirmed by other studies [31,32]. Earlier studies had not investigated polymorphism and chromosomal aberrations as a determining factor in infertility in Romania, therefore, this study could important in this regard.

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