Investigation of the expression levels of CPEB4, APC, TRIP13, EIF2S3, EIF4A1, IFNg, PIK3CA and CTNNB1 genes in different stage colorectal tumors

Background/aim: The aim of the study is to assess expression levels of CPEB4, APC, TRIP13, EIF2S3, EIF4A1, IFNg, PIK3CA and CTNNB1 genes in tumors and peripheral bloods of colorectal cancer patients in stages I–IV. Materials and methods: The mRNA levels of the genes were determined in tumor tissues and peripheral blood samples of 45 colorectal cancer patients and colon tissues and peripheral blood samples of 5 healthy individuals. Real-time polymerase chain reaction method was used for the analysis. Results: The mRNA level of the CPEB4 gene was significantly downregulated in colorectal tumor tissues and was upregulated in the peripheral blood of colorectal cancer patients relative to the controls (P < 0.05). APC mRNA level was significantly downregulated in tissues and upregulated in the peripheral blood (P < 0.05). TRIP13 mRNA level was upregulated in peripheral blood and also significantly upregulated in colorectal tumor tissues (P < 0.05). EIF2S3 mRNA level was upregulated in tissues and also significantly upregulated in peripheral blood (P < 0.05). PIK3CA mRNA level was downregulated in tissues and upregulated in peripheral blood. EIF4A1 mRNA level was downregulated in tissues and significantly upregulated in peripheral blood (P < 0.05). CTNNB1 mRNA level was downregulated in tissues and upregulated in peripheral blood. IFNg mRNA level was upregulated in both colorectal cancer tumor tissues and peripheral blood. Conclusion: TRIP13 and CPEB4 mRNA up regulation in the peripheral blood of patients with colorectal cancer may be a potential target for early stage diagnosis. In addition to this evaluation, although there is not much study on EIF2S3 and EIF4A1 mRNA changes in cases with colorectal cancer, upregulation in peripheral blood draws attention in our study. These data will shed light on the new comprehensive studies

Kronik Obstrüktif Akciğer Hastalarında Alfa – 1 Antitiripsin Genine İlişkin Genotipleme Çalışması.

Alfa 1 antitripsin geni 14. kromozomun uzun kolunda (14q32.1) yer almakta olup, 5 ekzon ve 4 introndan oluşur. 12301 bç uzunluğunda olan Alfa 1 antitripsin geni karaciğerde eksprese olur ve 394 aa’lik tek bir polipeptit zincirinden oluşan, 52kDa bir glikoprotein olan Alfa 1 antitripsin proteinini kodlar. Bu araştırmada, Afyon Kocatepe Üniversitesi Tıp Fakültesi Göğüs Hastalıkları Polikliniği ile Afyonkarahisar Göğüs Hastalıkları Hastanesi’nde KOAH tanısı alan ve Anabilim Dalımız Tıbbi Genetik Laboratuvarına refere edilen toplam 40 erkek olguda PCRELISA yöntemi kullanılarak AAT geninde yaygın olarak gözlenen S,Z ve M alellerine ait genotipleme çalışması yapıldı. Çalışılan 40 olgunun tümünde PiM / PiM genotipi saptandı. Veriler literatür ışığında değerlendirildi. Bölgesel olgulara ilişkin mutasyon değerlendirilmesi için daha geniş olgu serisinin çalışılması gerekildiği kanısına varıldı.Alpha 1 antitrypsin gene locates in long arm of the 14th chromosome (14q32.1) and constructed by 5 exon and 4 intron. α1 antitrypsin gene which is 12301 base pair long is expressed in liver and codes α1 antitrypsin protein which is a 52 kDa molecular weight glycoprotein and single polypeptide chain containing 394 amino acids. In this study, 40 male patient’ blood samples which have chronic obstructive pulmonary disease, referred from Afyonkarahisar Kocatepe University Faculty of Medicine Department of Respiratory Disease and Afyonkarahisar Respiratory Disease Hospital to our department were studied. S, Z and M allele genotype were analyzed with PCR-ELISA method. All of patients had PiMM genotype. Data collected from study and literature were combined and interpreted. This study shows that regional mutation analyses needs to be widespread data collection

Kronik Obstrüktif Akciğer Hastalarında Alfa – 1 Antitiripsin Genine İlişkin Genotipleme Çalışması.

Alfa 1 antitripsin geni 14. kromozomun uzun kolunda (14q32.1) yer almakta olup, 5 ekzon ve 4 introndan oluşur. 12301 bç uzunluğunda olan Alfa 1 antitripsin geni karaciğerde eksprese olur ve 394 aa’lik tek bir polipeptit zincirinden oluşan, 52kDa bir glikoprotein olan Alfa 1 antitripsin proteinini kodlar. Bu araştırmada, Afyon Kocatepe Üniversitesi Tıp Fakültesi Göğüs Hastalıkları Polikliniği ile Afyonkarahisar Göğüs Hastalıkları Hastanesi’nde KOAH tanısı alan ve Anabilim Dalımız Tıbbi Genetik Laboratuvarına refere edilen toplam 40 erkek olguda PCRELISA yöntemi kullanılarak AAT geninde yaygın olarak gözlenen S,Z ve M alellerine ait genotipleme çalışması yapıldı. Çalışılan 40 olgunun tümünde PiM / PiM genotipi saptandı. Veriler literatür ışığında değerlendirildi. Bölgesel olgulara ilişkin mutasyon değerlendirilmesi için daha geniş olgu serisinin çalışılması gerekildiği kanısına varıldı.Alpha 1 antitrypsin gene locates in long arm of the 14th chromosome (14q32.1) and constructed by 5 exon and 4 intron. α1 antitrypsin gene which is 12301 base pair long is expressed in liver and codes α1 antitrypsin protein which is a 52 kDa molecular weight glycoprotein and single polypeptide chain containing 394 amino acids. In this study, 40 male patient’ blood samples which have chronic obstructive pulmonary disease, referred from Afyonkarahisar Kocatepe University Faculty of Medicine Department of Respiratory Disease and Afyonkarahisar Respiratory Disease Hospital to our department were studied. S, Z and M allele genotype were analyzed with PCR-ELISA method. All of patients had PiMM genotype. Data collected from study and literature were combined and interpreted. This study shows that regional mutation analyses needs to be widespread data collection

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11). SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR) methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15)(q12;p11)] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15) has been inherited from the father because the mother had a normal karyotype (46,XX). In the proband, the der (15) could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister′s karyotypes was normal (46,XX) while his brother was not analyzed

Effect of gene polymorphisms in transmembrane protein 18 (TMEM18) and neuronal growth regulator 1 (NEGR1) on body mass index in obese subjects

Obesity is a complex disorder with nearly epidemic proportions in many parts of the world. Genome-wide association studies have demonstrated high heritability for obesity and body mass, with associations of certain candidate genes and their variations with respect to race, geographical location/country of origin. However, the functional mechanisms and different ethnic data of these loci are still poorly understood. In this case-control study, we investigated two single nucleotide polymorphisms, rs2815752 in the neuronal growth regulator 1 (NEGR1) gene and rs6548238 in the transmembrane protein 18 (TMEM18) gene, for association in a group of obese residents of Afyonkarahisar province (Turkey). Polymorphisms were genotyped in 172 obese subjects and 77 healthy controls. The results showed no significant differences between the obese subjects and the controls in terms of the allele and genotype frequencies of the NEGR1 gene rs2815752 and the TMEM18 gene rs6548238 polymorphisms. There were no significant associations of the rs2815752 polymorphism in obese subjects and controls with regard to anthropometric measurements and body composition parameters. However, several significant associations were found for the rs6548238 polymorphism with regard to anthropometric measurements and body composition. Consequently, there were no significant differences between the genotype and allele frequencies of NEGR1 gene rs2815752 and TMEM18 gene rs6548238 polymorphisms in the obese group and the controls. There were significant associations for the rs6548238 polymorphism, but not the rs2815752 polymorphism, with the anthropometric measurements and body composition parameters in the group of obese subjects