Browsing by Author "Akad, Selin"

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    Kanslı gen delesyonunun saptanmasında ACGH ve MLPA yönetiminin karşılaştırılması
    (Başkent Üniversitesi Sağlık Bilimleri Enstitüsü, 2018) Akad, Selin; Yılmaz Çelik, Zerrin
    Kromozomlarda belirlenen mikrodelesyon ve mikroduplikasyonlar, DNA’ daki kopya sayısı değişikliklerinin (CNV) patolojik bir alt grubudur. Bir kilobazdan birkaç megabaza kadar büyüklükleri değişebilmektedir. Dizin karşılaştırmalı genomik hibridizasyon (aCGH) teknolojisinin kullanılmaya başlamasından sonra bu tür kromozom dengesizliklerinin belirlenmesi kolaylaşmıştır. Bunlardan biri de 17q21.31 mikrodelesyon ve mikroduplikasyon sendromudur. 17q21.31 bölgesinde bulunan 500-650 kb büyüklüğündeki kopya kayıpları, Koolen-de Vries Sendromu (KdVS) olarak tanımlanır, zihinsel kısıtlılık, hipotoni ve belirgin yüz özellikleriyle birliktedir. Daha sonraki çalışmalar, bu bölgede yerleşik KANSL1 geninin haplo-yetersizliğinin, 17q21.31 mikrodelesyon sendromu bulgularının oluşması için yeterli olduğunu göstermiştir. Bu çalışma ile aCGH sonucunda 17q21.31 mikrodelesyon bölgesinde KANSL1 genini içeren kopya sayısı kaybı saptanan 30 hasta, MLPA yöntemi ile yeniden incelenmiştir. Bu karşılaştırma sonucunda 30 hastadan sadece 3’ ünde KANSL1 geninin delesyonu bulunurken, 1 hastada duplikasyon saptanmıştır. Bir hastanın sonucu ise yönteme bağlı nedenlerden dolayı değerlendirilememiştir. Yapılan bu çalışma ile aCGH ile KANSL1 genini içeren kopya kaybı saptanması durumunda, klinik değerlendirme ve başka bir yöntemle doğrulama yapılmadan rapor verilmesinin yanlış olacağı görülmüştür. Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants (CNV) of DNA. Sizes can change from one kilobase to several megabases. It has become easier to identify such chromosomal syndromes after use of array-based comparative genomic hybridization (aCGH) technology. One of them is 17q21.31 microdeletion and microduplication syndrome. Copy loss in size of 500-650 kb in the regions 17q21.31 which is describe as Koolen-de Vries Syndrome (KdVS) includes mental retardation, epilepsia, hypotonia and characteristic facial features. Novodays, we know that haplo-insufficiency of KANSL1 gene in this region is sufficient for occure of theses 17q21.31 microdeletion syndrome findings. In this study, 30 patients with a loss of copy number including the KANSL1 gene in 17q21.31 microdeletion region as a result of aCGH were examined by MLPA method again. As a result of this comparison, only three of the 30 patients had a deletion of the KANSL1 gene and duplication was found in one patient. The outcome of a patient can not be assessed due to procedural reasons. This study was show that if KANSL1 gene loss were detected by aCGH, it would be wrong to report it without being validated by clinical evaluation and another method.
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    Vitamin D receptor gene TaqI single nucleotide polymorphism is not associated with lead levels in maternal and umbilical cord blood
    (2019) Tohma, Yusuf Aytac; Akad, Selin; Colak, Eser; Kulaksizoglu, Sevsen; Akyol, Mesut; Terzi, Yunus Kasim; Ozcimen, Emel Ebru; Esin, Sertac; Sahin, Feride Iffet; 0000-0001-5612-9696; 0000-0001-7308-9673; 0000-0002-3808-7004; 0000-0001-9418-4733; 0000-0002-8184-7531; 29463156; AAC-8356-2020; B-4372-2018; AAC-7232-2020
    Purpose: We aimed to investigate the association of vitamin D receptor (VDR) gene TaqI single nucleotide polymorphism (SNPs) with serum lead (Pb) levels in maternal and umbilical cord blood. Materials and methods: Eighty-one patients who lived in Konya, Turkey for the last 3 years and had delivery at Baskent University Konya Hospital in 2016 were included in this study. Venous blood samples were drawn from each volunteer immediately before giving birth to determine the maternal Pb levels and VDR SNPs. Additionally, umbilical cord blood samples were collected from the umbilical vein into tube with EDTA as an anticoagulant immediately after birth to determine Pb levels of the fetus. Results: The median level of Pb in the maternal blood was 29.00 (Interquartile Range (IQR) = 16.35) mu g/L and the median Pb level in the cord blood was 22.50 (IQR = 9.75) mu g/L. Blood Pb level of women living in the urban area was significantly higher than in those living in the rural area (Z = 2.118; p = .034). There was a very strong positive correlation between the Pb levels in the maternal blood and in the umbilical cord blood (rho = 0.825, p < .001, respectively). Regarding VDR SNPs, "TT", "TC", and "CC" VDR TaqI genotypes were observed in 28 (34.6%), 45 (55.5%), and eight samples (9.9%), respectively. Pb levels in maternal and cord blood were higher in women with the "CC" VDR TaqI genotype; however, there was no statistically significant difference (p > .05). Conclusions: Although women with the "CC" VDR TaqI genotype had higher maternal and cord blood Pb levels, this was statistically insignificant and therefore, VDR TaqI SNPs did not significantly affect maternal and umbilical cord blood Pb levels.