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

RESULTS

Cytogenetic analysis revealed a number of numerical and structural abnormalities, but in this study only chromosomal polymorphisms involved in infertility are reported (Table 1). Chromosomal polymorphism were found in 122/1809 (6.74%) infertile patients in the study group and 63/1116 (5.65%) fetuses in the control group; this was not statistically significant (p = 0.24) (Figure1). The difference between the patients and controls for some specific chromosomal polymorphisms is statistically significant [e.g., inv(9), 1qh+, 9qh+, fra(17)]. This shows that there was a noteworthy relation at risk of infertility and polymorphic variants. The frequencies, according to our study, of the chromosomal polymorphisms for patients and controls are shown in Table 2. The most common variant observed in infertile couples was inv(9) (2.27%). Other chromosomal variants with a high incidence were 1qh+ (1.22%) and 9qh+ (1.11%). The least common polymorphic variations in infertile couples were usually observed in the para-centric heterochromatin on the long arms of chromosomes 16, 16qh+ (0.28%), the short-arm of the D and G groups of chromosomes 15ps+ (0.22), 21ps+ (0.33), 22ps+ (0.44%), and the distal heterochromatin of the Y chromosome, Yqh+ (0.16%). The frequency of heteromorphisms in females was 2.76% and 3.98% in males. Twenty males who had heteromorphisms were oligozoospermic or azoosper-mic. The seven women with chromosome heteromor-phisms had normospermic partners. As for the 1116 amniocentesis samples studied, we detected female karyotypes in 533 and male karyotypes in 583 fetuses. We observed polymorphisms in 63 fetuses (5.65%), 30 (1.65%) female and 33 (1.87%) male fetuses. The most frequent types of heteromorphisms in the control group were inv(9) at 3.76%, followed by 1qh+, 9qh+ and 16qh+ variants (0.36, 0.18 and 0.36%, respectively), followed by D and G group variants.

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