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ABSTRACT: We present the case of the childhood ALL that was identified by the translocation of the ABL1 gene to the q21 band of chromosome 2 without t(9;22)(q34;q11) translocation. The observation of a poor clinical course of the case may contribute to explanation of the action of t(9;22)(q34;q11) translocation, of which poor prognostic action is known on ALL's, in terms of ABL1 gene, independent of the BCR gene. On the other hand, the prognostic significance of this variant ABL1 translocation detection, which is very rarely observed, will cast a light on future cases (Tab. 1, Fig. 1, Ref. 11).
Bratislavske lekarske listy 01/2012; 113(1):19-20. · 0.40 Impact Factor
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ABSTRACT: Colchicine is commonly used in the treatment of Behçet's disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behçet's disease. We randomly selected 97 patients with Behçet's disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine. Forty-three patients were colchicine responsive, while the remaining 54 patients were unresponsive. No significant difference was found between genotypic and allelic frequencies of the ABCB1 C3435T polymorphisms in patients with Behçet's disease and healthy volunteers. Also, there was no significant difference among responsive and nonresponsive patients. We concluded that ABCB1 C3435T polymorphism is not associated with a colchicine response in patients with Behçet's disease.
Genetics and molecular research: GMR 01/2011; 10(1):1-6. · 1.18 Impact Factor
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ABSTRACT: Angiotensin-converting enzyme (ACE) is a vital enzyme in the renin-angiotensin-aldosterone system, and there are reports in the literature describing its role in the development of cardiovascular system diseases, with I/D polymorphism of the ACE gene. We examined the relationship between a patient group with obstructive sleep apnea syndrome (OSAS) and a control group in terms of I/D polymorphism of the ACE gene. We examined 64 patients, with 37 individuals serving as the control group. PCR was used to detect ACE I/D gene polymorphism. Genotype was determined according to the bands that formed on agarose gel electrophoresis. Among the 64 OSAS patients, 27 were identified with the ID genotype, 27 with the DD genotype and 10 with the II genotype; among the 37 control subjects, 19 were identified with the ID genotype, 11 with the DD genotype and 7 with the II genotype. When the case group and controls were compared in terms of ID, II and DD genotypes, no significant difference was observed. On the other hand, when the two groups were compared with respect to mean body mass index, the OSAS group was found to be significantly different from the control group (P = 0.009). We conclude that ACE I/D gene polymorphism is not a genetic risk factor for OSAS in Turkish patients.
Genetics and molecular research: GMR 01/2010; 9(2):734-8. · 1.18 Impact Factor
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ABSTRACT: It is well established that testicular differentiation of the human embryonic gonad depends on the action of the Y-chromosomal gene SRY. However, exceptional cases such as SRY-negative cases of 46,XX testicular disorder of sexual development (DSD), and of 46,XX ovotesticular DSD document that testicular tissue can develop in the absence of the SRY gene. These SRY-negative XX sex reversal cases are very rare and usually sporadic, but a few familial cases have been reported. We present a large, consanguineous family with nine affected individuals with phenotypes ranging from 46,XX testicular DSD to 46,XX ovotesticular DSD, with predominance of male characteristics. Absence of SRY in peripheral blood was documented by fluorescence in situ hybridization (FISH) and PCR analysis in all nine affected individuals, and by FISH analysis on gonadal sections with testicular tissue in four affected individuals. By quantitative PCR, a duplication of the SOX9 gene was excluded. In addition, as linkage analysis showed that the nine affected members of the family do not share a common SOX9 haplotype, any mutation at the SOX9 locus could be ruled out. Together, these findings implicate a mutation at a sex-determining locus other than SRY and SOX9 as the cause for the XX sex reversal trait in this family.
Sexual Development 02/2007; 1(1):24-34. · 2.27 Impact Factor
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ABSTRACT: The role of age, gender and smoking on both the genotoxic effects of Helicobacter pylori and the efficacy of eradication therapy in a group of patients with gastritis was investigated. Gastritis was confirmed by endoscopy and biopsy, and the presence of H. pylori by urease testing. Pre- and post-treatment peripheral blood lymphocyte cultures were prepared from 17 patients and 25 metaphases per patients were analysed for sister chromatid exchange (SCE), a well-established technique for the evaluation of human exposure to toxic agents. Treatment with omeprazole, clarithromycin and amoxycillin triple therapy eradicated H. pylori in 94% of patients and significantly reduced the SCE frequency. Pre-treatment SCE frequency was found to be positively correlated with age. Female smokers tended to have higher post-treatment SCE frequencies than male smokers, and pre- and post-treatment SCE frequencies were higher in older males than in older females. Eradication therapy decreased the genotoxicity of H. pylori, but age in males and smoking in females may decrease treatment efficacy.
The Journal of international medical research 30(4):380-5. · 0.90 Impact Factor
