Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Bazı turunçgil anaçlarında demir (Fe) klorozuna dayanıklılıktan sorumlu genlerin sscp markırlarıyla allelik çeşitliliğinin araştırılması

TEZ7437Tez (Yüksek Lisans) -- Çukurova Üniversitesi, Adana, 2009.Kaynakça (s.66-73) var.ix, 92 s. : rnk.res. ; 29 cm.We performed SSCP (Single Stranded Conformation Polimorphism) analysis in order to discover allelic diversity of candidate genes responsible for iron chlorosis in citrus rootstocks. Three Iron chlorosis candidate genes were selected from existing Citrus ESTs databases and Arabidopsis thaliana genome databases. Iron-Sulfur assembly protein, Vacuolar Metal Transporter and root iron transporter candidate genes were used. Eight citrus genotypes were selected to be representative cultivars of the basic taxon of Citrus to analyse the polymorphism. Two primers were used to amplify for each gene with these eight genotypes and directly sequencing of amplified DNA of candidate genes was done from PCR products to design new SSCP primers. We developed new primers for further diversity and routine genotyping by SSCP method from the results of direct sequencing on the basic taxa. Two pair of primers were defined for each genes...Turunçgil anaçlarında demir klorozundan sorumlu genlerde allelik çeşitliliği tespit etmek amacıyla SSCP analizleri gerçekleştirilmiştir. İlk olarak turunçgil EST lerinden demir klorozundan sorumlu üç aday gen belirlenmiştir. Turunçgil anaçlarını temsil eden 8 farklı turunçgil genotipi seçilerek, belirlenen aday genlere özgü PCR primerleri kullanılarak genlerin PCR amplifikasyonları gerçekleştirilmiştir ve PCR ürünlerinden direk DNA sekans yapılarak genlerin seçilen 8 genotip açısından DNA sekansları belirlenmiştir. DNA sekans sonuçlarının analizleri bilgisayar paket programları aracılığıyla yapılarak polimorfizmler belirlenmiştir. SSCP analizlerini gerçekleştirmek amacıyla bu mutasyonlu bölgeleri çoğaltacak yeni SSCP primerleri dizayn edilmiştir ve SSCP analizlerine geçilmiştir. Dizayn edilen SSCP primerleri ve tez kapsamında kullanılan toplam 35 farklı turunçgil anacına ait DNA materyalleri kullanılarak PCR reaksiyonları gerçekleştirilmiştir.Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi Tarafından Desteklenmiştir. Proje No:ZF2009YL

Investigation of genes involved in nucellar embryony mechanisms by molecular tecniques in citrus.

TEZ10848Tez (Doktora) -- Çukurova Üniversitesi, Adana, 2016.Kaynakça (s. 97-108) var.xiv, 157 s. : res. (bzs. rnk.), tablo ; 29 cm.Turunçgil ıslahçıları nüseller embriyoni özelliğinden dolayı bazı genotiplerin gerçek gücünü ve/veya özelliklerini melezleme sonucunda oluşan bireylere aktaramamaktadır. Öte yandan fidancılar için nüseller embriyoni özelliği, tohumdan direkt olarak klonal çoğaltım konusunda büyük avantajlar sağlamaktadır. Bu tez çalışmasının amacı turunçgillerde nüseller embriyoni mekanizması ile ilişkili genlerin belirlenmesidir. Çalışmada bitkisel materyal olarak %99 apomiktik tohumlar üreten ‘Orlando tangelo’ ve monoembriyonik bir çeşit olan ‘Klemantin mandarini’ kullanılmıştır. İlk olarak ‘Orlando tangelo’ genotipinde nüseller embriyo başlangıç hücrelerinin hangi dönemde farklılaşmaya başladığı histolojik analizler ile belirlenmiştir. Histolojik analizler sonucunda nüseller embriyo başlangıç hücrelerinin antezisi takip eden üçüncü günde farklılaşmaya başladığı tespit edilmiştir. RNA-Seq analizleri Illumina HiSeqTM 2000 ile gerçekleştirilmiş ve dizilerde kalite kontrol testleri yapılmıştır. Çalışmada referans genom olarak Citrus clementina kullanılmıştır. Daha sonra örnekler arasında farklı seviyelerde ifade olan genler belirlenmiş ve bu genlere dayalı olarak gen ontolojisi (GO) analizleri gerçekleştirilmiştir. Orlando tangelo balon- Orlando tangelo 3. gün örneklerinde 2359 (1996 up regüle, 363 down regüle) ve Klemantin mandarini 3. gün-Orlando tangelo 3. gün örneklerinde ise 123 (1372 up regüle, 751 down regüle) farklı ifade olan gen (DEGs) belirlenmiştir. Bu veri seti, nüseller embriyoni mekanizması için turunçgil transkriptom değişiklikleri ile ilişkili değerli bilgiler sağlamış olup, poliembriyoni için önemli olan genlerin tanımlanması ve fonksiyonel analizleri için gelecekteki çalışmalara kılavuz olabilecektir.True power and/or features of genotypes are not passed to individuals as a result of hybridization due to nucellar embryony by Citrus breeders. This situation for researchers working in citrus breeding studies can lead to loss of time and Money being quite large. On the other hand, nucellar embryony mechanism provide a great advantage to clonal propagation from direclty seeds for nurserymen. The aim of the present thesis study is to determine differentially expressed genes involved in nucellar embryony mechanism. In this study used ‘Orlando tangelo’ producing 99% apomictic seeds and ‘Clementine mandarin’ known as monoembryonic as plant materials. First detected the period which the nucellar embryo initial cells began to develop in ‘Orlando tangelo’ by histological analysis. Nucellar embryo initial cells were first observed in third day after anthesis. RNA-Seq analysis were performed using by Illumina HiSeqTM 2000, called as raw reads, was subjected to quality control (QC). After QC, raw reads were filtered into clean reads aligned to the reference sequences. Citrus clementine full genome was used as reference genome. Then differentially expressed genes (DEGs) among samples was determined and based on these genes were carried out gene ontology (GO) analysis. It was identified 2359 differentially expressed genes (DEGs) (1996 up regulated, 363 downregulated), 2123 (1372 up regulated, 751 down regulated), genes from the samples at Orlando tangelo balloon stage- Orlando tangelo third day and Clementine mandarin third day and Orlando tangelo third day, respectively. This dataset provides valuable information regarding citrus transcriptome changes for nucellar embryony mechanism and may help guide future identification and functional analysis of genes that are important for polyembrony.Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi tarafından desteklenmiştir. Proje No: ZF2012D9

EFFECT OF DROUGHT STRESS IN IN VITRO AND DROUGHT RELATED GENE EXPRESSION IN CARRIZO CITRANGE

Citrus fruits are one of the most important fruit groups cultivated in the world. Growth and development of plants are affected by abiotic factors such as salinity and drought. Global climate change will increase water stress risk in the near future. One of the aims of plant biotechnology is the development of plants tolerant to drought. In the present study, the effect of in vitro drought stress on Carrizo citrange and expression levels of drought related genes were investigated. Four different PEG concentrations (1%, 2%, 4% and 6%) and PEG-free MS medium supplemented with 1 mg/L BA were used. The plants were subcultured 3 times at each 4 weeks. During each subculture period, the responses of plants to the drought were examined. Dry weight (gr), fresh weight (gr), shoot length (cm), and multiplication coefficient (unit / plant) were recorded. As a result of plant tissue culture studies, it was determined that plants continue to propagate in all media. However, there was a decrease in the multiplication coefficient in increasing PEG doses. In addition, expression levels of three different genes associated with drought in leaf samples from each subculture (SC) of plant were investigated and it was observed that genes had accelerating expression levels with increasing PEG doses. With these results, it has been revealed that drought-related genes are triggered