
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
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MATERIALS AND METHODS
During the period from January 2008 to April
2011, 1809 infertile patients (969 men and 840 women)
were referred to the Department of Reproductive
Medicine, Life Memorial Hospital, Bucharest,
Romania. Informed consent was obtained from the
patients and donors prior to collection of heparinized
blood samples. These patients were investigated for
the frequency of chromosomal polymorphic variations.
All the patients were evaluated by a skilled
medical specialist and tested for antiphospholipid
antibodies and relevant hormones. Ultrasonography
was performed to rule out other causes of infertility.
All cases were Caucasians.
The control group, considered to be a sample
of the fertile population, consisted of 1116 fetuses
(originating from spontaneous pregnancies). This
group was investigated by amniocentesis in the period
between January 2009 and April 2011. None of
the pregnancies was obtained by an assisted reproductive
technique (ART) and the reasons for referral
were standard indications for amniocentesis such as
abnormal serum screening levels or advanced maternal
age.
Amniotic fluid samples were cultured in Amniomax
complete medium (Gibco, Grand Island, NY,
USA) and peripheral blood samples in PBmax and
Chromosome B medium (Gibco); G-banded chromosomes
were analyzed after harvesting [16]. At least
15 metaphases were analyzed for each case and 10
metaphases were karyotyped using light microscopy.
The banding resolution was 400-550 bands per haploid
set (BPHS). The results of the two groups were
then compared.
Heteromorphism variations were reported according
to the recommendations of the International
System for Chromosome Nomenclature 2009 [17,18]. Statistical Analyses. The results for the two
groups were compared using the two-tailed Fisher’s
exact test and calculated on line at the GraphPad Software
website (http: //www.graphpad.com/quickcalcs/
contingency1.cfm8).
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