Yazar "Tepgeç, Fatih" seçeneğine göre listele

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  • Küçük Resim
    Öğe
    Antik Kadıkalesi toplumunun mitokondriyal kökenlerinin belirlenmesi
    (2022) Tepgeç, Fatih; Görgülü, Mehmet
    Amaç: Sunulan çalışmada, Kadıkalesi Anaia kazılarından elde edilen, 13.- 15. yüzyıllar arasındaki insana ait biyolojik materyallerde aDNA elde edilip, Mitokondriyal DNA’dan maternal kökenlerinin tayin edilmesi planlanmıştır. Bu sayede bölgenin mitokondriyal haplogruplarının ve olası göç yolların tespitine dair ön bilgilerinin tespiti hedeflenmiştir. Yöntem: Bu amaçla; 2016-2018 yıllarındaki açmalardan elde edilen ve Bizans dönemine tarihlendirilen 20 bireye ait kalıntılar incelenmiştir. Bireylerde önce antropometrik incelemeler yapılmış, ardından Sanger dizileme ile mitokondriyal HVR1 ve HVR2 bölgeleri incelendi. Elde edilen dizileme verileri online programlar vasıtası ile değerlendirildi. Bulgular: Çalışmanın sonucunda 20 bireyden 12’si yaş, boy ve cinsiyet bakımından kimliklendirilmiştir. İnceleme sonucu 16 bireyin maternal haplogrubuna erişilmiş ve çoğunluğunun Batı Avrasya makrohaplogruplarından oluşmuş olduğu bulunmuştur. Buna ek olarak Sahra-altı haplogruplara sahip iki birey saptanmıştır. Grubun çoğunda post mortem DNA hasarı gözlemlenmiştir. Sonuç: Sunulan çalışmada Kadıkalesi Anaia’daki geç bizans dönemi toplumunun yapısı hakkında hakkında genetik bilgi elde edilmiştir. Bu sonuçlar bölgede yapılacak diğer kazı alanlarında, dönemin toplum yapısının genetiğini öğrenmek için oldukça önemli bilgiler sağlayacaktır.
  • Küçük Resim
    Öğe
    GJB2-related non-syndromic hearing loss variants’ spectrum and their frequency in Turkish population
    (2022) Güleç, Çağrı; Aslanger, Ayça Dilruba; Karaman, Volkan; Wollnik, Bernd; Tepgeç, Fatih; Kayserili, Hülya; Uyguner, Z. Oya
    Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients. Materials and Methods: Two exons of the GJB2 gene were amplified in 402 NSHL patients by two separate PCR reactions and sequenced using the Sanger technique. Results: We found 13 different GJB2 variants in 35% (141/402) of the patients with NSHL. 53.9% were homozygous and 33.3% were compound heterozygous for the most common (59.21%) variant, c.35delG. Approximately 13% of the patients were found to carry the variants in the heterozygous state. The most frequent GJB2 variant c.35delG was followed by c.71G>A (6.38%), c.-23+1G>A (3.54%) and c.233delG (2.48%). We found heterozygous p.Asp50Glu (c.150C>A) alteration in four of eight patients with keratitis, ichthyosis, deafness (KID) and palmoplantar keratoderma (PPK) syndrome. Conclusion: Our results further emphasize the well-known prevalance of the GJB2 c.35delG alteration being the most predominant variant in the Turkish NSHL patients. The high rate of mono-allelic state could be considered as coincidental due to high allelic heterogeneity of NSHL, or possibly suggestive for digenic inheritance.
  • [ X ]
    Öğe
    The mitochondrial origins of the hellenistic individuals of Ayasuluk Hill
    (Istanbul University Press, 2022) Tepgeç, Fatih; Görgülü, Mehmet
    Objective: The present study aimed to extract ancient DNA from the remains of three individuals from the 4th century BC in order to determine the haplogroups through a mitochondrial DNA study, thus providing information about Anatolian migrations in ancient times. Materials and Methods: For this purpose, the study examined the remains of three bodies found at the bottom of the city walls from the archeological excavations between 2007-2008 and dated to the 4th century BC. After taking anthropometric measurements, the study examined the mitochondrial HVR1 and HVR2 regions by using Sanger sequencing and then used online programs to evaluate the data from the sequencing. Results: As a result of the study, death due to a possible injury from a sharp object was observed on the right femur of one of the three individuals. The maternal haplogroups of the individuals were determined to belong to the T2b group of European origin. Conclusion: The present study obtained genetic information regarding three individuals found at the bottom of the ancient city walls on Ayasuluk Hill. These results will provide important information about the commander of the ruins found on the walls of the Ayasuluk Hill of the ancient city of Ephesus, which constantly changed hands during the Wars of the Diadochi.