Улогата на медицинската сестра во Mакедонската банка за хумана ДНК
Article Sidebar
Main Article Content
Апстракт
ОСНОВА: Банка за хумана ДНК (хДНАМКД) претставува складирање на примерок на ДНК од поединецот, како и нејзино безбедно и долгорочно чување со цел да се обезбеди примерок на генетски материјал за медицински и научни истражувања. Македонската банка за хумана ДНК датира од 2000 година и во неа се дефинирани неколку проектни полиња. Медицинската сестра како дел од стручниот тим извршува многу активности со кои учествува во истражувачката дејност на хДНАМКД.
ЦЕЛ: Целта е да се презентира улогата на мединцинската сестра во хДНАМКД во сите сегменти во кои таа зема учество почнувајќи од земањето на писмена согласност, земање на примероци, ДНК екстракција и складирање на истата.
МАТЕРИЈАЛ И МЕТОДИ: Примероците на ДНК се земени од доброволни дарители по претходно потпишана согласност, доброволно и без притисок. Поединците се информирани во однос на видот на истражувањата што ќе се вршат, аранжманите за пристап и споделување на складираните примероци и времетраењето на чување на примероците. ДНК е изолирана од периферна крв со фенол-хлороформ метод за екстракција. Квалитетот и квантитетот на изолираната геномска ДНК е определен со 260/280 УВ спектрофотометар со GENEQUANT pro RNA/DNA калкулатор. Интактноста на изолираната ДНК е одредена со електорфореза на ДНК на агарозен гел по што истата се аликвотира во нормализирана концентрација и се складира во замрзнувач Heraus Sepatech на -80оЦ.
РЕЗУЛТАТИ: Во хДНАМКД се дефинирани три проектни области: антропологија, несродни пациенти и сродни пациенти. Лабораторискиот код за ДНК примероците што се чуваат во Македонската банка за хумана ДНК е MKDSPI. Вкупниот број на примероци кои се складирани во Македонската банка за хумана ДНК до крајот на 2010 година е 5252 примероци – 1575 во антропологијата, 2186 несродни пациенти и 1491 сродни пациенти.
ЗАКЛУЧОК: Медицинската сестра има целокупно учество во собирање на сите важни информации за генетските истражувања како земање на семејна историја, медицински информации и доброволна согласност од страна на дарителите. При тоа мора да ги применува етичките приципи за одржување на приватноста и доверливоста на генетски информации. Преку правилно земање и соодветно одбележување на примероците крв таа обезбедува точност на резултатите добиени од генетските истражувања. Претставува неопходен дел од тимот на хДНАМКД заради што треба да има големо искуство и знаење од областа на генетиката и медицинската етика.
Downloads
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Референци
Data storage and DNA banking for biomedical research: technical, social and ethical issues. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 2003; 11, Suppl 2: S8-S10 http://dx.doi.org/10.1038/sj.ejhg.5201115 PMid:14718935 DOI: https://doi.org/10.1038/sj.ejhg.5201115
American Society of Human Genetics. Ad hoc committee on DNA technology, DNA banking and DNA analysis: Points to consider. Am J Hum Genet 1988; p: 781-3
Thornton M, Gladwin A, Payne R, Moore R, Cresswell C, McKechnie D, Kelly S, March R. Automation and validation of DNA-banking systems (abstract). In: Drug Discov Today. 2005 Oct 15;10(20): 1369-75. http://dx.doi.org/10.1016/S1359-6446(05)03560-9 DOI: https://doi.org/10.1016/S1359-6446(05)03560-9
Spiroski M, Arsov T, Petlichkovski A, Strezova A, Trajkov D, Efinska-Mladenovska O, Zaharieva E. Case Study: Macedoniam Human DNA bank (hDNAMKD) as a source for public health genetics. Health determinants in the scope of new public health. Sofia 2005: 34-44
Knoppers BM, Hirtle M, Lormeau S, Laberge C, Laflamme M, Control of DNA samples and information. Genomics, 1998: 50: 385-401. http://dx.doi.org/10.1006/geno.1998.5287 PMid:9676435 DOI: https://doi.org/10.1006/geno.1998.5287
American College of Medical Genetics. Storage of Genetics Materials. Materials Committee. ACMG Statement. Statement on storage and use of genetics materials. Am J Hum Genet 1995; 57: 1499-500. PMid:8533780 PMCid:PMC1801411
Spiroski M, Trajkov D, Petlichkovski A, Efinska-Mladenovska O, Sibinovska O, Hristomanova S. Practicum for Human Genetics. Skopje: Medical Facuty, 2009.
Spiroski M. Ethics in basic biomedical investigations. Macedonian Medical Review.
Macedonian bank for human DNA. http://www.hdna.mk. Accesed: October 02, 2015.
Nunes JM, Buhler S, Roessli D, Sanchez-Mazas A; HLA-net 2013 collaboration. The HLA-net GENE[RATE] pipeline for effective HLA data analysis and its application to 145 population samples from Europe and neighbouring areas. Tissue Antigens. 2014;83(5):307-23. http://dx.doi.org/10.1111/tan.12356 PMid:24738646 DOI: https://doi.org/10.1111/tan.12356
Nunes JM, Riccio ME, Buhler S, Di D, Currat M, Ries F, Almada AJ, Benhamamouch S, Benitez O, Canossi A, Fadhlaoui-Zid K, Fischer G, Kervaire B, Loiseau P, de Oliveira DC, Papasteriades C, Piancatelli D, Rahal M, Richard L, Romero M, Rousseau J, Spiroski M, Sulcebe G, Middleton D, Tiercy JM, Sanchez-Mazas A. Analysis of the HLA population data (AHPD) submitted to the 15th International Histocompatibility/ Immunogenetics Workshop by using the Gene[rate] computer tools accommodating ambiguous data (AHPD project report). Tissue Antigens. 2010;76(1):18-30. http://dx.doi.org/10.1111/j.1399-0039.2010.01469.x DOI: https://doi.org/10.1111/j.1399-0039.2010.01469.x
Trajkov D, Petlichkovski A, Efinska-Mladenovska O, Hristomanova S, Djulejic E, Kirijas M, Senev A, Spiroski M. Distribution of 22 cytokine gene polymorphisms in Roma from the Republic of Macedonia. Iran J Allergy Asthma Immunol. 2012;11(4):282-93. PMid:23264404
Petlichkovski A, Djulejic E, Trajkov D, Efinska-Mladenovska O, Hristomanova S, Kirijas M, Senev A, Spiroski M. Distribution of killer cell immunoglobulin-like receptor genes in Roma from Republic of Macedonia. Int J Immunogenet. 2011;38(6):493-500. http://dx.doi.org/10.1111/j.1744-313X.2011.01039.x PMid:21955885 DOI: https://doi.org/10.1111/j.1744-313X.2011.01039.x
Djulejic E, Petlichkovski A, Trajkov D, Hristomanova S, Middleton D, Spiroski M. Distribution of killer cell immunoglobulinlike receptors in the Macedonian population. Hum Immunol. 2010;71(3):281-8. http://dx.doi.org/10.1016/j.humimm.2009.12.001 PMid:20004695 DOI: https://doi.org/10.1016/j.humimm.2009.12.001
Zimmermann B, Brandstätter A, Duftner N, Niederwieser D, Spiroski M, Arsov T, Parson W. Mitochondrial DNA control region population data from Macedonia. Forensic Sci Int Genet. 2007;1(3-4):e4-9. http://dx.doi.org/10.1016/j.fsigen.2007.03.002 PMid:19083765 DOI: https://doi.org/10.1016/j.fsigen.2007.03.002
Strezova A, Arsov T, Petlichkovski A, Trajkov D, Efinska-Mladenovska O, Spiroski M. Ambiguous allele combinations at group level of HLA-A, -C, and –B genes in Macedonian population using reverse line strip typing method. Prilozi. 2008;29(1):77-91. PMid:18709002
Pavkovic M, Petlichkovski A, Strezova A, Arsov T, Trajkov D, Spiroski M. Gene frequencies of human platelet antigens in the Macedonian population. Tissue Antigens. 2006;67(3):241-6. http://dx.doi.org/10.1111/j.1399-0039.2006.00551.x PMid:16573563 DOI: https://doi.org/10.1111/j.1399-0039.2006.00551.x
Trajkov D, Arsov T, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Spiroski M. Cytokine gene polymorphisms in population of ethnic Macedonians. Croat Med J. 2005;46(4):685-92. PMid:16100774
Spiroski M, Arsov T, Krí¼ger C, Willuweit S, Roewer L. Y-chromosomal STR haplotypes in Macedonian population samples. Forensic Sci Int. 2005;148(1):69-73. http://dx.doi.org/10.1016/j.forsciint.2004.04.067 PMid:15607593 DOI: https://doi.org/10.1016/j.forsciint.2004.04.067
Petlichkovski A, Efinska-Mladenovska O, Trajkov D, Arsov T, Strezova A, Spiroski M. High-resolution typing of HLA-DRB1 locus in the Macedonian population. Tissue Antigens. 2004;64(4):486-91. http://dx.doi.org/10.1111/j.1399-0039.2004.00273.x PMid:15361127 DOI: https://doi.org/10.1111/j.1399-0039.2004.00273.x
Trajkov D, Atanasovska-Stojanovska A, Petlichkovski A, Strezova A, Gogusev J, Hristomanova S, Djulejic E, Petrov J, Spiroski M. IL-1 gene cluster polymorphisms in the Macedonian population. Maced J Med Sci. 2008; 1(1): 26-33. http://dx.doi.org/10.3889/MJMS.1857-5773.2008.0001 DOI: https://doi.org/10.3889/MJMS.1857-5773.2008.0001
Spiroski M. Retraction: Ana Strezova. Genotyping of HLA-A, HLA-C and HLA-B Loci with Reverse Line Strip Hybridization in Macedonian Population and Association of HLA Class I Alleles with Spondilitis [MSc thesis]. Maced J Med Sci. 2010; 3(2):188-191. http://dx.doi.org/10.3889/MJMS.1857-5773.2009.0107 DOI: https://doi.org/10.3889/MJMS.1857-5773.2009.0107
Djulejic E, Senev A, Kirijas M, Hristomanova S, Petlichkovski A, Trajkov D, Spiroski M. Allele Frequency of HLA-DQB1 Locus in Macedonian Population. Maced J Med Sci. 2012; 5(1):67-71. http://dx.doi.org/10.3889/MJMS.1857-5773.2012.0223 DOI: https://doi.org/10.3889/MJMS.1857-5773.2012.0223
Petlichkovski A, Djulejic E, Trajkov D, Efinska Mladenovska O, Hristomanova Mitkovska S, Spiroski M. Distribution of Killer Cell Immunoglobulin-Like Receptor Genes in Albanians from Republic of Macedonia. SEE J Hum Genet. 2015; 2015:40001. http://dx.doi.org/10.3889/seejhg.2015.40001 DOI: https://doi.org/10.3889/seejhg.2015.40001
Atanasovska-Stojanovska A, Popovska M, Trajkov D, Spiroski M. IL1 cluster gene polymorphisms in Macedonian patients with chronic periodontitis. Bratisl Lek Listy. 2013;114(7):380-5. http://dx.doi.org/10.4149/bll_2013_080 DOI: https://doi.org/10.4149/BLL_2013_080
Spiroski M, Milenkovic Z, Petlichkovski A, Ivanovski L, Topuzovska IK, Djulejic E. Killer cell immunoglobulin-like receptor genes in four human West Nile virus infections reported 2011 in the Republic of Macedonia. Hum Immunol. 2013;74(3):389-94. http://dx.doi.org/10.1016/j.humimm.2012.11.015 PMid:23220498 DOI: https://doi.org/10.1016/j.humimm.2012.11.015
Pavkovic M, Stojanovic A, Karanfilski O, Cevreska L, Spiroski M. Association of polymorphisms in human platelet antigens with idiopathic thrombocytopenic purpura in Macedonians. Prilozi. 2012;33(1):135-46. PMid:22952100
Atanasovska-Stojanovska A, Trajkov D, Popovska M, Spiroski M. IL10 -1082, IL10 -819 and IL10 -592 polymorphisms are associated with chronic periodontitis in a Macedonian population. Hum Immunol. 2012;73(7):753-8. http://dx.doi.org/10.1016/j.humimm.2012.04.009 PMid:22537751 DOI: https://doi.org/10.1016/j.humimm.2012.04.009
Stavric K, Peova S, Trajkov D, Spiroski M. Gene polymorphisms of 22 cytokines in Macedonian children with atopic dermatitis. Iran J Allergy Asthma Immunol. 2012;11(1):37-50. PMid:22427475
Atanasovska-Stojanovska A, Trajkov D, Nares S, Angelov N, Spiroski M. IL4 gene polymorphisms and their relation to periodontal disease in a Macedonian population. Hum Immunol. 2011;72(5):446-50. http://dx.doi.org/10.1016/j.humimm.2011.02.005 PMid:21354455 DOI: https://doi.org/10.1016/j.humimm.2011.02.005
Trajkov D, Trajchevska M, Arsov T, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Sandevski A, Spiroski M. Association of 22 cytokine gene polymorphisms with tuberculosis in Macedonians. Indian J Tuberc. 2009;56(3):117-31. PMid:20349753
Spiroska V, Kedev S, Antov S, Trajkov D, Petlichkovski A, Hristomanova S, Djulejic E, Paneva M, Senev A, Spiroski M. Association between 22 cytokine gene polymorphisms and dilated cardiomyopathy in Macedonian patients. Kardiol Pol. 2009;67(11):1237-47. PMid:20024851
Spiroski I, Kedev S, Antov S, Trajkov D, Petlichkovski A, Dzhekova-Stojkova S, Kostovska S, Spiroski M. Investigation of SERPINE1 genetic polymorphism in Macedonian patients with occlusive artery disease and deep vein thrombosis. Kardiol Pol. 2009;67(10):1088-94. PMid:20017074
Trajkov D, Mishevska-Perchinkova S, Karadzova-Stojanoska A, Petlichkovski A, Strezova A, Spiroski M. Association of 22 cytokine gene polymorphisms with rheumatoid arthritis in population of ethnic Macedonians. Clin Rheumatol. 2009;28(11):1291-300. http://dx.doi.org/10.1007/s10067-009-1238-4 PMid:19662331 DOI: https://doi.org/10.1007/s10067-009-1238-4
Trajkov D, Arsov T, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Gogusev J, Spiroski M. Distribution of the 22 cytokine gene polymorphisms in healthy Macedonian population. Bratisl Lek Listy. 2009;110(1):7-17.
Trajkov D, Mirkovska-Stojkovikj J, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Sandevska E, Sibinovska O, Hristomanova S, Djulejic E, Petrov J, Gogusev J, Spiroski M. Association of cytokine gene polymorphisms with chronic obstructive pulmonary disease in Macedonians. Iran J Allergy Asthma Immunol. 2009;8(1):31-42. PMid:19279357
Spiroski I, Kedev S, Antov S, Arsov T, Krstevska M, Dzhekova-Stojkova S, Bosilkova G, Kostovska S, Trajkov D, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Spiroski M. Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis. Acta Biochim Pol. 2008;55(3):587-94. PMid:18800176 DOI: https://doi.org/10.18388/abp.2008_3065
Trajkov D, Mirkovska-Stojkovikj J, Arsov T, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Sandevska E, Gogusev J, Spiroski M. Association of cytokine gene polymorphisms with bronchial asthma in Macedonians. Iran J Allergy Asthma Immunol. 2008;7(3):143-56. PMid:18780949
Spiroski I, Kedev S, Antov S, Arsov T, Krstevska M, Dzhekova-Stojkova S, Kostovska S, Trajkov D, Petlichkovski A, Strezova A, Efinska-Mladenovska O, Spiroski M. Association of methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genetic polymorphisms with occlusive artery disease and deep venous thrombosis in Macedonians. Croat Med J. 2008;49(1):39-49. http://dx.doi.org/10.3325/cmj.2008.1.39 DOI: https://doi.org/10.3325/cmj.2008.1.39
PMid:18293456 PMCid:PMC2269242
Arsov T, Miladinova D, Spiroski M. Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels. Croat Med J. 2006;47(3):433-9. PMid:16758522 PMCid:PMC2080416
Stefanovska AM, Efremov GD, Dimovski AJ, Jasar D, Zografski G, Josifovski T, Panovski M, Jankova R, Spiroski M. TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in Macedonian colorectal cancer patients. Correspondence re: B. Pasche et al. Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility Allele. Cancer Res., 58: 2727-2732, 1998. Cancer Res. 2001;61(22):8351-2. PMid:11719470
Petlichkovski A, Milenkovic Z, Djulejic E, Jefremovska B, Babacic H, Ivanovski LJ, Kondova Topuzovska I, Spasovska K, Spiroski M. Association of Killer Cell Immunoglobulin-Like Receptor Genes with Pandemic Influenza A (H1N1)pdm09 Infection in Critically Ill Macedonian Patients. Maced J Med Sci. 2012; 5(3):288-295.
http://dx.doi.org/10.3889/MJMS.1857-5773.2012.0265 DOI: https://doi.org/10.3889/MJMS.1857-5773.2012.0265
Petlichkovski A, Stojanoski Z, Cibrev D, Spiroski M. Killer Cell Immunoglobulin-Like Receptor Genes Polymorphisms in Macedonian Patients with Haematological Malignancies. Maced J Med Sci. 2013; 6(1):24-30.
http://dx.doi.org/10.3889/MJMS.1857-5773.2012.0271 DOI: https://doi.org/10.3889/MJMS.1857-5773.2012.0271
Djulejic E, Petlichkovski A, Trajkov D, Dimitrov G, Alabakovska S. KIR Gene Frequencies in Women with Infertility Problems. SEE J Immunol. 2015; 2015:20002. http://dx.doi.org/10.3889/seejim.2015.20002 DOI: https://doi.org/10.3889/seejim.2015.20002
Hristomanova Mitkovska S, Trajkov D, Mihajlovikj J, Spiroski M. Gene Polymorphisms of 22 Cytokines in Macedonian Children with Hyperimmunoglobulinemia E. SEE J Immunol. 2015; 2015:20001. http://dx.doi.org/10.3889/seejim.2015.20001 DOI: https://doi.org/10.3889/seejim.2015.20001
Kirijas M, Mishevska-Perchinkova S, Karadzova-Stojanoska A, Efinska-Mladenovska O, Petlichkovski A, Trajkov D, Spiroski M. Association between HLA-A, HLA-C and HLA-B Genes and Ankylosing Spondylitis in Macedonian Population. Maced J Med Sci. 2012; 5(3):263-268. http://dx.doi.org/10.3889/MJMS.1957-5773.2012.0255 DOI: https://doi.org/10.3889/MJMS.1957-5773.2012.0255
Jakjovski K, Labachevski N, Petlichkovski A, Senev A, Trojacanec J, Atanasovska E, Kostova E, Spiroski M. Distribution of CYP2C9 and VKORC1 Gene Polymorphisms in Healthy Macedonian Male Population. Maced J Med Sci. 2013;6(4):339-343. http://dx.doi.org/10.3889/MJMS.1857-5773.2013.0319 DOI: https://doi.org/10.3889/MJMS.1857-5773.2013.0319
Spiroski I, Kedev S, Efinska-Mladenovska O. Factor V Leiden (G1691A), Factor V R2 (A4070G), and Prothrombin (G20210A) Genetic Polymorphisms in Macedonian Patients with Occlusive Artery Disease and Deep Vein Thrombosis. SEE J Cardiol. 2015; 2015:30001. http://dx.doi.org/10.3889/seejca.2015.30001 DOI: https://doi.org/10.3889/seejca.2015.30001
Efinska-Mladenovska O, Trajkov D, Petlichkovski A, Sibinovska O, Hristomanova Mitkovska S, Spiroski M. Immunonephelometry and Reverse Hybrydization Genotyping in Diagnosis of Alpha-1-Antitrypsin Deficiency in Macedonians. SEE J Immunol. 2015; 2015:20004. http://dx.doi.org/10.3889/seejim.2015.20004 DOI: https://doi.org/10.3889/seejim.2015.20004
Trajkovski V, Spiroski M. DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia. Bratisl Lek Listy. 2015;116(1):14-9. http://dx.doi.org/10.4149/bll_2015_003 DOI: https://doi.org/10.4149/BLL_2015_003
Petlichkovski A, Stojanoski Z, Djulejic E, Georgievski B, Spiroski M. Association of Killer Cell Immunoglobulin-Like Receptor Genes with the Graft versus Host Disease after Related Haematopoietic Stem Cell Transplantation in Patients with Haematological Malignancies from Republic of Macedonia. Maced J Med Sci. 2012; 5(4):404-410. http://dx.doi.org/10.3889/MJMS.1857-5773.2012.0270 DOI: https://doi.org/10.3889/MJMS.1857-5773.2012.0270
Spiroski M. Immunological and Immunogenetic Changes in Children with Autistic Disorder in Republic of Macedonia. SEE J Immunol. 2015; 2015:20003. http://dx.doi.org/10.3889/seejim.2015.20003 DOI: https://doi.org/10.3889/seejim.2015.20003