DNA sequencing

Study of the correlation between GH gene polymorphism and growth traits in sheep

J. L. Jia, Zhang, L. P., Wu, J. P., Ha, Z. J., and Li, W. W., Study of the correlation between GH gene polymorphism and growth traits in sheep, vol. 13, pp. 7190-7200, 2014.

The growth hormone gene plays an important role in the physiological function of an organism. The current study aimed to investigate the correlation between polymorphisms in the 5ꞌ regulatory region, exon 4, and 3ꞌ untranslated region (UTR) of the sheep GH gene and sheep growth traits. The DNA from 510 adult sheep was analyzed by DNA sequencing and polymerase chain reaction single-strand conformation polymorphism.

Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey

G. G. Ceylan, Ceylan, C., and Ozturk, E., Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey, vol. 11, pp. 1185-1194, 2012.

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients.

Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer

Y. Dodurga, Satiroglu-Tufan, N. L., Tataroglu, C., and Kesen, Z., Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer, vol. 10, pp. 86-95, 2011.

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and have some oncogenic effects.

ChromaPipe: a pipeline for analysis, quality control and management for a DNA sequencing facility

T. D. Otto, Vasconcellos, E. A., Gomes, L. H. F., Moreira, A. S., Degrave, W. M., Mendonça-Lima, L., and Alves-Ferreira, M., ChromaPipe: a pipeline for analysis, quality control and management for a DNA sequencing facility, vol. 7, pp. 861-871, 2008.

Optimizing and monitoring the data flow in high-throughput sequencing facilities is important for data input and output, for tracking the status of results for the users of the facility, and to guarantee a good, high-quality service. In a multi-user system environment with different throughputs, each user wants to access his/her data easily, track his/her sequencing history, analyze sequences and their quality, and apply some basic post-sequencing analysis, without the necessity of installing further software.

Myostatin (GDF8) single nucleotide polymorphisms in Nellore cattle

A. B. Grisolia, D’Angelo, G. T., Neto, L. R. Porto, Siqueira, F., and Garcia, J. F., Myostatin (GDF8) single nucleotide polymorphisms in Nellore cattle, vol. 8, pp. 822-830, 2009.

The myostatin gene, also known as GDF8 (growth dif­ferentiation factor 8), is located on bovine chromosome 2 (BTA2); it has three exons and two introns. Myostatin is specifically expressed during embryonic development and in adult skeletal muscle, func­tioning as a negative regulatory protein. Several cattle breeds (Pied­montese, Belgian Blue and Blond’Aquitaine, and others) show poly­morphisms in this gene; these polymorphisms are directly related to the double muscling phenotype.

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