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Mr. Abdullah HANTA
CU AGENTEM

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Research Keywords & Expertise

0 cancer and clinical oncology
0 qPCR, gene expression, clinical association studies
0 Colorectal cancer (CRC)
0 Molecular genetics and genomics
0 NGS - Next Generation Sequencing

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Journal article
Published: 31 January 2021 in Genes
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Background: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The national newborn screening (NBS) program for CF has been initiated in Turkey since 2015. If the immunoreactive trypsinogen (IRT) is elevated (higher than 70 μg/L in the second control) and confirmed by sweat test or clinical findings, genetic testing is performed. The aims of this study are to emphasize the effect of NBS on the status of genetic diagnosis centers with the increasing numbers of molecular testing methods, and to determine the numbers and types of CFTR mutations in Turkey. Methods: The next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) results of 1595 newborns, who were referred to Cukurova University Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM) for molecular genetic testing, were evaluated with positive CF NBS program results since 2017. Results: According to the results; 560 (35.1%) of the 1595 patients carried at least 1 (one) CF-related variant, while 1035 patients (64.9%) had no mutation. Compound heterozygosity for two mutations was the most common in patients, while two detected variants were homozygote in 14 patients. A total of 161 variants were detected in 561 patients with mutations. Fifteen novel variants that have not been previously reported were found. Moreover, p.L997F was identified as the most frequent pathogenic mutation that might affect the IRT measurements used for the NBS. The distribution of mutation frequencies in our study showed a difference from those previously reported; for example, the well-known p.F508del was the third most common (n = 42 alleles), rather than the first. The most striking finding is that 313 cases had a pathogenic variant together with the V470M variant, which might have a cumulative effect on CF perpetuation. Conclusion: This study is the first to determine the mutational spectrum of CFTR in correlation with the NBS program in the Turkish population. NBS for CF raises issues regarding screening in diverse populations, both medical and non-medical benefits, and carrier identification. Through the lens of NBS, we focused on the integrated diagnostic algorithms and their effect on the results of genetic testing.

ACS Style

Sevcan Bozdogan; Cem Mujde; Ibrahim Boga; Ozge Sonmezler; Abdullah Hanta; Cagla Rencuzogullari; Dilek Ozcan; Derya Altintas; Atil Bisgin. Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey. Genes 2021, 12, 206 .

AMA Style

Sevcan Bozdogan, Cem Mujde, Ibrahim Boga, Ozge Sonmezler, Abdullah Hanta, Cagla Rencuzogullari, Dilek Ozcan, Derya Altintas, Atil Bisgin. Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey. Genes. 2021; 12 (2):206.

Chicago/Turabian Style

Sevcan Bozdogan; Cem Mujde; Ibrahim Boga; Ozge Sonmezler; Abdullah Hanta; Cagla Rencuzogullari; Dilek Ozcan; Derya Altintas; Atil Bisgin. 2021. "Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey." Genes 12, no. 2: 206.

Preprint
Published: 16 December 2020
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Inflammatory bowel diseases, familial adenomatous polyposis (FAP) and colorectal cancer (CRC) are associated with alterations of the intestinal microbiota. However, few data are available on the perpetuation of FAP and ulcerative colitis (UC) in relation to microbial dysbiosis. This study evaluated the UC and genetically confirmed FAP patients’ gut microbial balance in concordance to clinical outcome. Fecal materials (average mass of 0.54 g) were collected from three FAP and five UC patients to compare with healthy individuals as control group. Genomic materials of micro-biota were isolated for next generation sequencing of 16S rRNA that was performed by using QIAseq 16S/ITS panel in Illumina Miseq Platform. Data processing and bioinformatics analysis were performed via CLC Genomic Workbench bioinformatics tool. The comparison between FAP, UC and control group revealed an alteration in the intestinal microbial composition. More in details, relative abundance of class levels showed statistical significance differences among FAP, UC and control groups. Our preliminary data focused on the explanation of how dysbiosis can lead to inflammation and drive processes together with host genetic profile that leads to colorectal carcinogenesis.

ACS Style

Abdullah Hanta; Ahmet Rencuzogullari; Ibrahim Boga; Ismail Cem Eray; Atil Bisgin. Changes of Gut Microbiota in Fap and UC Patients in Mediteranean Region of Turkey: An –Omic Landscape to Be Discovered. 2020, 1 .

AMA Style

Abdullah Hanta, Ahmet Rencuzogullari, Ibrahim Boga, Ismail Cem Eray, Atil Bisgin. Changes of Gut Microbiota in Fap and UC Patients in Mediteranean Region of Turkey: An –Omic Landscape to Be Discovered. . 2020; ():1.

Chicago/Turabian Style

Abdullah Hanta; Ahmet Rencuzogullari; Ibrahim Boga; Ismail Cem Eray; Atil Bisgin. 2020. "Changes of Gut Microbiota in Fap and UC Patients in Mediteranean Region of Turkey: An –Omic Landscape to Be Discovered." , no. : 1.