Familial reciprocal translocation t (8; 17)(p23; q21) in a woman with recurrent spontaneous abortion

This work presents the results of cytogenetic analysis of a couple referred to our genetics laboratory with ten first trimester abortions and one IVF failure. The male showed a normal (46, XY) karyotype whereas the female was found to carry an apparently balanced reciprocal translocation [46, XX, t (8; 17)(p23; q21)]. Two sisters and two brothers of the eight siblings of the female proved to have the same translocation. Although the female's father is deceased and his sample was not available for investigation. The origin of this translocation must be paternal since the female's mother harbored a normal karyotype. It is concluded that the history of recurrent pregnancy losses in the couple is due to the production of unbalanced gametes in the female as a result of the reciprocal translocation she has and the couple was advised to undergo a PGD for embryo selection prior to their future IVF trials. The authors also recommend that all RSA couples with normal routine work-up results should be offered chromosomal analysis without delay

Common Interleukin-18 Gene Polymorphisms in Women with Recurrent Spontaneous Abortion in Gaza Strip-Palestine

Accepted: 12 Dec 2014 Background: This work was carried out in order to investigate the association between Interleukin-18 (IL-18) gene SNPs (+ 105A> C," rs549908";-137 G> C," rs187238";-607 C> A," rs1946518"; and-656 G> T," rs1946519") and RSA among Palestinian women residing in Gaza Strip. Methods: In this case-control study, samples from 200 women (100 suffering from RSA and 100 control) were examined. All participants were genotyped for IL-18 SNPs:-137 G> C,-607 C> A,+ 105A> C, and-656 G> T. Allele specific polymerase chain reaction (AS-PCR) was used to detect IL-18-137 G> C and-607 C> A SNPs whereas, restriction fragment length polymorphism (RFLP-PCR) method was used for genotyping IL-18+ 105A> C and-656 G> T polymorphisms. Results: The results revealed that there is no significant association between the allele/genotype frequencies of the investigated IL-18 SNPs and RSA in the study population. Though not significant, the two groups showed remarkable differences in terms of allele/genotype frequencies of SNP-137 G> C. Conclusion: Among the examined IL-18 SNPs the promoter-137 G> C may be important in RSA in the investigated population

Polymorphism in Regulatory T-cell (Treg)-Related Genes Is Associated with Unexplained Recurrent Pregnancy Loss

In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this study was conducted in order to investigate the association between single nucleotide polymorphism (SNP) in regulatory T-cell related STAT3 (rs4796793 C/G), FOXP3 (rs3761548 A/C), LIF (rs3753082 T/C), NKG7 (rs71358833 A/G) and CCR5 (rs34418657 G/T) genes and unexplained RPL in a group of Palestinian women residing in Gaza strip. A retrospective case-control study was carried out during the period (August 2015 to March 2016). A total of 200 females, 100 RPL patients and 100 control women without previous history of RPL, aged 20–35 years were included in the study. STAT3 (rs4796793 C/G), FOXP3 (rs3761548 A/C), LIF (rs375082 T/C), NKG7 (rs71358833 A/G) and CCR5 (rs34418657 G/T) polymorphisms were tested by PCR-RFLP. Statistically significant difference existed between RPL cases and controls in terms of the genotypic distribution of the tested polymorphisms. STAT3 CC, FOXP3 AA, LIF CC, NKG7 AA and CCR5 GG genotypes were significantly higher in the RPL group. The tested polymorphisms shape the first elements of immune tolerance-related risk SNPs panel for RPL in the investigated population and may lead to improved therapeutic approaches