Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah
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Abstract
Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease. (FH) is commonly caused by mutations in the three genes: The Low-Density Lipoprotein Receptor (LDLR), apolipoprotein B (apoB), Proprotein Convertase Subtilisin ⁄ Kexin type 9 (PCSK9). The current study aimed to identify mutations in people with homozygous genotypes that affect protein binding causing defects and to ensure that these conditions are diagnosed through important molecular tests through the early intervention of the apoptoprotein gene (apoB) for the R3500Q mutagenic of healthy individuals not associated with hypercholesterolemia (FH) in Sulaymaniyah through the conduct of the polymer chain reaction system and Restrication enzyme genotyping. The study included determination of the polymorphism of genes associated with familial hypercholesterolemia (FH). The molecular study included the genetic analysis of (50) samples of the R3500Q mutation of the apoB gene, after adding the ScaI enzyme, showed there three genotype: were four cases found Homozygous to be one bundle (S+ ⁄ S+) (143 bp), a one case compound heterozygous (S- ⁄ S+) model are two bundle ( 143 bp, 90 bp) and a fourty-five cases had mutant Homozygous (S- ⁄ S-) model of the one bundle (90 bp), all the R3500Q mutations were found on the same allele.
the study also included the R3500Q mutation of the apoB gene and Its relation to the studied traits, there was a significant increase in the 0.01 for cholesterol, TG and LDL for patients with hypercholesterolemia was mean (235.61 mg ⁄ dl, 321.83 mg ⁄ dl and 330.90 mg ⁄ dl) respectively , compared to healthy pateints with mean (172.15 mg ⁄ dl , 109.88 mg ⁄ dl and 77.1 mg ⁄ dl).
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References
1-Goldstein, J.L. and Brown, M.S. (2013). The LDL receptor, Arterioscler Thromb Vasc Biol. 29 431-438.
2-Chmara,M.;Wasag, B.;Zuk, M.(2010). Molecular characterization of Polish patients with familial hypercholesterolemia: novel and Recurrent LDLR mutations . J Appl Genet.51(1):95-106.
3-Fouchier, S.W.; Kastelein, J.J.P.; Defesche, J.C. (2005). Update of the molecular basis of familial hypercholesterolemia in the Netherlands .Human Mutation. vol. 26,no. 6, pp. 550-556.
4-Leighi, S.E.A.; Foster, H.; Whittall, R.A.; Hubbart, C.S.; Humphries, S. E. (2008). Update and analysis of the university College London low density lipoprotein receptor familial hypercholesterolemia database . Annals of Humman Genetics.Vol.72, No 4, pp. 485-498.
5-Schaefer, G. B. and James, N. T.(2014). Medical Genetic. McGraw-Hill Education and its licensors reserve all rights in and to the . work.pp.374.
6-Burnett, JR.; Ravine, D.; Van Bockxmeer, FM.; Watts, GF. (2005). Familial hypercholesterolemia: a look back , a look ahead . Med J Aust.182(11): 552-553.
7-Martínez-Martínez, I., Montoro - García, S., Lozada-Ramírez, J. D., ánchez - Ferrer, Á., & García-Carmona, F. (2007). A colorimetric assay for the determination of acetyl xylan esterase or cephalosporin C acetyl esterase activities using 7- amino cephalosporanic acid, cephalosporin C, or acetylated xylan as substrate. Analytical Biochemistry, 369(2), 210–217.
8-Ahmadi, S.-A., Boroumand, M.-A., Gohari-Moghaddam, K., Tajik, P., & Dibaj, S.-M. (2008). The impact of low serum triglyceride on LDL - cholesterol estimation. Archives of Iranian Medicine, 11(3), 318–321.
9-Dong, J., Guo, H., Yang, R., Li, H., Wang, S., Zhang, J., & Chen, W. (2011) . Serum LDL- and HDL-cholesterol determined by ultracentrifugation and HPLC. Journal of Lipid Research, 52(2), 383–388 .
10-Kobayashi, Y.; Nakajima, T.; Inoue, I.; (2002). Molecular modeling Of the dimeric structure of human lipoprotein lipase and functional studies of the carboxyl - terminal domain, Eur J Biochem 269 : 4701-4710.
11-Sacks , FM.; and Katan, M. (2002). Randomized clinical trials on the effects of dietry fat and carbohydrate on plasma lipoproteins And cardiovascular disease. J. Med. 113.suppl. (9): 135-246. Receptor gene on serum lipid levels of the Brazilian indiviuals with high risk for coronary heart disease. 13:251-258.
12-Wishart, DS.; Lewis, MJ.; Morrissey, JA.; Flegel, MD.; Jeronic,K.(2008).The human cerebrospinal fluid metabolism . J Chromatogr B Technol Biomed Life Sci. 871:164-173.
13-Hansen, P.S. (1998). Familial defective apolipoprotein B-100. US National Library of Medicine .
14-Goldstein, J.L.; Hobbs, H.H.; and Brown, M.S. (2001). Familial hypercholesterolemia: The metabolic and molecular basis of Inherited disease. Ch.120. vol. II. New York: Mc-Graw-Hill: 2863-913.
15-Boren , J. ; Ekstrom, U.; Agren, B. (2001). The Molecular mechanism for the genetic disorder Familial Defective apolipoprotein B-100. J. Biol Chem. : 276 : 9214-8 .
16-Ferguson-Smith, M. A. (2011). Putting Medical Genetics into Practice. Annual Review of Genomics and Human Genetics, 12(1), 1–23.
17- Fard - Esfahani, P.; Zeinali, C.; Rouhi, D.; Taghikhani, M.; Khatami, SA. (2006). Novel mutation in exon 4 of the low density Lipoprotein LDL receptor gene in an Iranian familial hyper-cholesterolemia patient. Iran Biomend J. 9 (3) : 139-42
18-Fard-Esfahani, P.; Mohammadi - Torabi, P.; Khatami, S.; Zeinali, S.; Taghikhani, M.;
Allahyari, M. (2005). Familial defective apolipoprotein B-100: frequency of R3500Q mutation of apolipoprotein B gene in Iranian hypercholesterolemic patients. Acta Medica Iranica. 43: 193-6 .
19-Farrokhi, E.; Shayestesh, F.; Asadi, S.; Roghani, F.;Ghatreh, K.; Hashemzadeh, M.(2008). Molecular characterization of Iranin Patients with possible familial hypercholesterolemia. Ind. J. Clin Biochem. 26 (3) : 244-248 .
20-Al-Obaidy, O. R. K. (2016). Effect of HindIII and Ser447Ter polymorphisms of lipoprotein metabolism and concentrations in Atherosclerosis patients in Tikrit and Samarra cities. PhD. College of Education for Pure Sciences , University of Tikrit.
21-Al-Jafari, A.A.; Daoud, M. S.; Moreira, A. F. and Al Anazi, M. S.(2012). DNA Polymorphisms of the Lipoprotein Lipase Gene And Their association with Coronary Artery Disease in the Saudi Population. Int. J. Mol. Sci. 13: 7559-7574.
22-Shimo-Nakanishi, Y.; Urabe, T.; Hattori, N.; Watanabe, Y.; Nagao, T. (2001). Polymorphism of the Lipoprotein Lipase Gene and Risk of Atherothrombotic Cerebral Infarction in the Japanese. Stroke.;32: 1481-1486 .
23-Ahmadi, Z.;Senemar, S.;Toosi, S.;Radmanesh, S.(2015). The Association of Lipoprotein Lipase Genes, HindIII and S447X Polymorphisms with Coronary Artery Disease in Shiraz City. J. Cardiovasc Thorac Res. 7: 63-67.
24-Horvath, A.; Ganev, V. (2001). The mutation apoB-100 in Eastern Europe . Atherosclerosis. 156 (1) : 241-2 .
25-Mills, P.; Chong, G.; Ghement, I.; Singh, S.; Guyatt, G. (2011). Efficacy and safety of statin treatment for cardiovascular disease a network meta- analysis of 170 . 255 patients from randomized trials QJM: Journal of the Association of physicions. 104: (2): 109-24.