The single nucleotide polymorphism rs2305957 G/A is not associated with recurrent pregnancy loss.

Background: This study was conducted in order to investigate the association between the single nucleotide polymorphism (SNP) rs2305957 G/A and recurrent pregnancy loss (RPL) in a group of Palestinian women residing in Gaza strip. Methods: A retrospective case-control study was carried out during the period (May to August, 2015). A total of 380 females, 190 RPL patients and 190 control women without previous history of RPL, aged 20–35 years were included in the study. The SNP was analyzed by tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR). Results: No statistically significant difference existed between RPL cases and controls in terms of the allelic and genotypic distribution of rs2305957 G/A. Conclusions: SNP rs2305957 G/A does not represent a risk factor for RPL in the investigated population.

A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report.

This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The neonate was born as a "collodion-baby" and he is the product of a maternal first cousin marriage. DNA sequencing of the coding exons of transglutiminase-1 (TGM1) gene revealed a novel missense (c.A1621C) mutation in exon 11. The mutation altered codon 541 from ACC into CCC thus changing the amino acid threonine into proline (p.T541P) and was predicted to be pathogenic. The presence of the mutation in both parents in heterozygous form and in the patient in homozygous form was further confirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) designed specifically for the identified mutation. It is concluded that the T541P mutation is the cause of the congenital ichthyosis in the presented case and the parents were advised to undergo a PGD-IVF for embryo selection prior to their next pregnancy.

Association between functional polymorphisms of Foxp3 and Interleukin-21 genes with the occurrence of recurrent pregnancy loss in Gaza strip-Palestine.

Background: This study was conducted in order to investigate the association between IL-21 (rs2055979 G/T and rs13143866 A/G) and Foxp3 (rs2232365 A/G and rs3761548 A/C) gene polymorphisms and recurrent pregnancy loss (RPL) in a group of Palestinian women residing in Gaza strip. Methods: A retrospective case-control study was carried out during the period (January to June, 2014). A total of 200 females, 100 RPL patients and 100 controls women without previous history of RPL, aged 20–35 years were included in the study. IL-21 rs13143866 A/G and Foxp3 rs2232365 A/G polymorphisms were analyzed by allele-specific PCR whereas, IL-21 rs2055979 G/T and Foxp3 rs3761548 A/C polymorphisms were investigated by PCR-RFLP. Results: No statistically significant difference existed between RPL cases and controls in terms of the allelic and genotypic distribution of IL-21 rs2055979 or rs13143866. On the other hand, the two Foxp3 gene polymorphisms showed statistically significant association with RPL: the rs2232365 A/G allele G and its homozygous genotype G/G and the rs3761548 A/C allele A and its A/A genotype were significantly higher in RPL group. Conclusions: Foxp3 rs2232365 A/G and rs3761548 A/C polymorphisms represent risk factors for RPL in Gaza strip women. IL-21 polymorphisms rs2055979 G/T and rs13143866 A/G however, do not pose tangible risk for RPL in our population. Study results should be confirmed on a larger sample.