Chromosomal abnormality in men with impaired spermatogenesis.

Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population.

Materials And Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality.

Association of Prothrombin (A20210G) and Factor V Leiden (A506G) with Recurrent Pregnancy Loss.

Background: Inherited thrombophilias are the leading cause of maternal thromboembolism and are associated with an increased risk of recurrent spontaneous abortion (second- and third-trimester fetal loss). The purpose of this study was to investigate the effects of factor V and factor II involved in reproductive failure. Recently a possible association between unexplained infertility and genetic thrombophilia gene mutations have been reported with a significant statistically association with prothrombin A20210G.

Association of pericentric inversion of chromosome 9 and infertility in romanian population.

Background: One of the most common structural balanced chromosome rearrangements is pericentric inversion of chromosome 9; inv(9)(p11q12), which is consider to be the variant of normal karyotype and has been found in normal population. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility and recurrent abortions. The incidence is found to be about 1% - 3% in the general population.

RFC - 1 Gene Polymorphism and the Risk of Down Syndrome in Romanian Population.

Background And Aims: There is evidence that the polymorphisms of the genes involved in folate metabolism may be associated with higher risk of Down syndrome (DS) pregnancy. The aim of the present study was to investigate the effect of A80G polymorphism in reduced folate carrier 1 (RFC1) gene on the maternal risk for DS.

Methods: In our study, twenty-two DS mothers and forty-two mothers who had no children with DS were evaluated.

Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study.

Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban-area women cohort. Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups, as opposed to the findings of Scala et al.

Population data for Y-chromosome haplotypes defined by 17 STRs in South-East Romania.

Haplotypes and allele frequencies for 17 STR loci included in AmpFlSTR YFiler kit (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATAH4, DYS437, DYS438 and DYS448) were determined in a sample of 122 unrelated males living in the South-East Romania. Genetic distances had been calculated and dendrograms had been generated for South-East Romanian population and other eighteen surrounding populations.