Jacobsen syndrome: a case report and clinical features of a rare genetic syndrome

Objective: Jacobsen syndrome is an infrequent contiguous gene syndrome that involves the deletion of the long arm of chromosome 11. It is mostly accompanied by intellectual disability and other abnormalities. The majority of the patients are hospitalized or lost within the first two years of life. Case(s): We report a case of a fetus at 21 weeks of gestation with Jacobsen syndrome who presented with a conotruncal cardiac defect. Amniocentesis was performed, and karyotype analysis revealed that there was a de novo deletion of chromosome 11. The family decided to terminate the pregnancy. Conclusion: Prenatal diagnosis of Jacobsen syndrome is not always possible, since the characteristic ultrasound findings vary greatly between patients. Additionally, existing symptoms and signs may not always be found with imaging techniques. However, if present, certain ultrasonographic findings should lead clinicians to consider the syndrome. The study aims to present a rare case of Jacobsen syndrome, inform the clinicians, and guide on this syndrome and its possible outcomes

Glutathione S-transferase M1 and T1 gene polymorphisms in patients with chronic plaque-type psoriasis: A case-control study

Objective: To determine the role of glutathione S-transferase (GST) isoenzyme polymorphisms as susceptibility factors in patients with psoriasis in a Turkish cohort. Subjects and Methods: In this case-control study, 105 patients with plaque-type psoriasis and 102 healthy controls were recruited from the dermatology outpatient clinics of two university hospitals. Genomic DNA was extracted from whole blood using a DZ DNA isolation kit. Multiplex PCR was used to determine GSTM1 and GSTT1 polymorphisms in the isolated DNAs. Results: Of the 150 patients with psoriasis, 83 (79%) were identified with the GSTT1 genotype and 22 (21%) with the null genotype. Of the 102 patients in the control group, 69 (67.6%) subjects were identified with the GSTT1 genotype and 33 (32.4%) with the null genotype. There was no significant difference between the patient and control groups (p = 0.063). Regarding the GSTM1 polymorphism, 54 (51.4%) patients were identified with this genotype and 51 (48.6%) with the null genotype; in the control group, 50 (49%) were identified with this genotype and 52 (51%) with the null genotype. Again there was no statistically significant difference between the groups (p = 0.957). Conclusion: In this Turkish cohort of patients with psoriasis, neither GSTT1 nor GSTM1 polymorphisms were associated with disease susceptibility. Larger studies with a wider range of GST isoenzyme are needed

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

AbstractAimVarious mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease.MethodsOne hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene.ResultsAs a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p<0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p>0.05).ConclusionsTo our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed

Investigation of GSTP1 (Ile105val) gene polymorphlsm ln chronic myelold leukaemla patlents

Bazı kanser türlerinde yatkınlık ile Faz II detoksifikasyon reaksiyonlarında yer alan Glutatyon-S-Transferaz(GST) enzimi genlerinin polimorfizmleri arasında ilişki gösterilmiştir. Bu çalışmada, kronik myeloid lösemi (KML) gelişimin ile GSTP1 (lle105Val) gen polimorfizmi arasındaki ilişkiyi araştırmayı amaçladık.Çalışmamıza KML tanısı almış 71 hasta ve herhangi bir kanser hikayesi olmayan 67 kişi alındı. GSTP1 (lle105Val) gen polimorfizmi için polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi (polymerase chain reaction-restriction fragment length polymorphism=PCR-RFLP) yöntemi uygulandı. Agaroz jeldeki bantlara göre genotipler belirlendi. İstatistiksel analizde p0.05).Bulgularımız GSTP1 (IIe105Val) gen polimorfizmi ile KML arasında bir ilişki olmadığını göstermiştir. Bununla birlikte daha geniş olgu serilerinde bu sonuçlar desteklenmelidir.Associations between polymorphisms for genes encoding Glutathione S-transferases (GST) enzymes involved in Phase II detoxification reactions and susceptibility to some cancers have been shown in several studies. The aim of the present study is to investigate the influence of Glutathione S-transferases P1 (IIe105Val) gene polymorphism in susceptibility to chronic myeloid leukaemia (CML).71 CML patients and 67 control subjects with no cancer history were enrolled in our study. PCR-restriction fragment length polymorphism (PCR-RFLP) method was used for GSTP1 (lle105Val) gene polymorphism. Genotypes were determined according to the bands that formed in agarose electrophoresis gels. In statistical analysis, the level of significance was set at p0.05).Our results showed that there was not any association between GSTP1 (IIe105Val) gene polymorphism and chronic myeloid leukaemia. However, these findings should be confirmed in studies with larger population

Obstrüktif uyku apne sendromu olan türk hastalarda TNF-alfa G308A ve C857T gen polimorfizmlerinin incelenmesi

Objective: Tumor necrosis factor-alpha (TNF-alpha) is an important indicator of inflammation. Recent studies have demonstrated a relationship between inflammation and obstructive sleep apnea syndrome (OSAS). The aim of this study was to investigate the association between TNF-alpha G308A and C857T gene polymorphisms and OSAS in Turkish patients. Material and Methods: Sixty-nine patients who were diagnosed with OSAS and 42 control subjects were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect TNF-alpha G308A and C857T gene polymorphisms. The level of significance for statistical analysis was set at p 0.05). However, the mean body mass index of the OSAS group was significantly different from that of the control group (p<0.05). Conclusion: To our knowledge, this study is the first to analyze the relationship between OSAS and INF-alpha G308A and C857T gene polymorphisms in Turkish patients. Our results do not support an association between OSAS and TNF-alpha G308A and C857T gene polymorphisms

Investigation of glutathione-S-transferases (GSTT1 and GSTM1) gene polymorphisms in turkish patients with type 1 diabetes(T1D)

Oksidatif stres, tip 1 diyabet (T1D) ve komplikasyonlarının gelişiminde önemli bir rol oynamaktadır Oksidatif stresin zararlı etkilerine karşı savunma sistemlerinden biri de Glutatyon-S-Transferaz (GST)’dır. Çalışmamızda, GSTT1 ve GSTM1 gen polimorfizmleri ile T1D’li Türk hastalar arasındaki ilişkiyi araştırmayı amaçladık. Çalışmamıza, T1D tanısı konmuş 71 hasta ile 62 kontrol birey dahil edildi. GSTM1 ve GSTT1 gen polimorfizmini değerlendirmek için multiplex PCR yöntemi kullanıldı. İstatistiksel analizde anlamlılık düzeyi p 0.05). Bu sonuçlar GSTT1 ve GSTM1 negatif(null) genotiplerinin T1D ve komplikasyonların gelişimi için katkısının olmadığını göstermektedir fakat daha geniş olgu sayılı çalışmalara ihtiyaç vardır.Oxidative stress plays an important role in the development of type 1 diabetes(T1D) and its complications. Glutathione-S-Transferases (GST) is one of the defense systems against the harmful effects of oxidative stress. In our study, we aimed to investigate the relationship between GSTT1 and GSTM1 gene polymorphisms and Turkish patients with T1D. In our study, 71 patients were diagnosed with T1D and 62 control subjects were included. GSTM1 and GSTT1 gene polymorphisms were used to evaluate the multiplex PCR method.In statistical analysis, the level of significance was set at p0.05). These results show that GSTT1 and GSTM1-negative (null) genotypes may not contribute to the development of T1D and its complications but more studies with larger sample size are needed