An integrated clinical-laboratory and molecular-genetic approach in the diagnosis of genetic abnormalities among the population of Azerbaijan Republic
Применение комплексного клинико-лабораторного и молекулярно-генетического подхода в диагностике генетических патологий среди населения Азербайджанской Республики
Gunay Akbarova 1
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1 Бакинский Государственный Университет, г.Баку, Азербайджан
J CLIN MED KAZ, Volume 3, Issue 33, pp. 8-12.
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ABSTRACT
It is presented an overview of the results of own studies in 39 settlements of Mugan, Shirvan, Ganja and Lenkoran-Kazakh economic regions of Azerbaijan during the period since 2005 to 2013 in this article. It was diagnosed the types of congenital and hereditary abnormalities, installed options of inheritance and frequency of their distribution by means of biochemical, hematological and molecular-genetic methods. The additional analysis by Reverse Dott-Blot Hybridization StripAssay and Big DyeTM Terminator DNA methods were hold in ambiguous clinical and laboratory results. The obtained results will make the basis of nation-wide register of congenital and hereditary diseases and will help in the differential diagnosis and treatment.
CITATION
Akbarova G. An integrated clinical-laboratory and molecular-genetic approach in the diagnosis of genetic abnormalities among the population of Azerbaijan Republic. Journal of Clinical Medicine of Kazakhstan. 2014;3(33):8-12.
REFERENCES
- Healthcare, social security and housing conditions in Azerbaijan // Statistical publication. Baku. 2012.-226 p.
- Васильева Е.М., Баканов М.И., Гордеева Г.Ф. и др. Фосфолипидный состав эритроцитов при неврологических нарушениях у детей // Журнал неврологии и психиатрии им. С.С. Корсакова.-2002. - № 7.-С.41-44.
- Васильева Е.М., Баканов М.И., Зубкова И.В. и др. Биохимические изменения эритроцитов при детском церебральном параличе и других органических поражениях центральной нервной системы // Журнал неврологии и психиатрии им. С.С. Корсакова.- 2005. -№ 9.-С.38-41.
- Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice // Nat Clin Pract Urol- 2007. – V.4.- P.192–204.
- Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter´s syndrome// Lancet.- 2004. – V.364.-P.273–283.
- Zinn AR, Ramos P, Elder FF, et al. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome// J Clin Endocrinol Metab.-2005. – V.9.–P.5041-5046.
- Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients// J Clin Endocrinol Metab.-2004. – V.89.- P.6208-6217.
- Geschwind DH, Dykens E. Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome //Learning Disabilities Research & Practice.-2004. – V.19(3).- P.166.
- Van Rijn S, Aleman A, Swaab H, Kahn RS. 2005. Neurobiology of emotion and high risk for schizophrenia: role of the amygdala and the X-chromosome // Neurosci Biobehav Rev.-2005. – V.29(3). – P.385-397.
- Tikmani SS, Warraich HJ, Abbasi F, et al. Incidence of neonatal hyperbilirubinemia: a population-based prospective study in Pakistan // Trop Med Int Health.- 2010. – V.15(5).-P.502–507.
- Maisels MJ. Neonatal jaundice//Pediatr Rev.- 2006. – V.27(12).-P.443–454.
- Minucci A, Moradkhani K, Hwang MJ, et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations// Blood Cells Mol Dis.- 2012. – V.48.-P.154–165.
- WHO/EURO. From Malaria Control to Elimination 2006-2015 in the WHO European Region // World Health Organization Regional Office for Europe. 2006.
- WHO. World Malaria Report 2011. // Geneva: World Health Organization. 2011.
- Ibrahimov F, Ibrahimova A, Kehler J, Richardson E. Azerbaijan: Health system review: European Observatory on Health Systems and Policies. 2010.