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Cell Journal، جلد ۲۱، شماره ۱، صفحات ۸۶-۹۱
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عنوان انگلیسی The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia
چکیده انگلیسی مقاله Objective: Familial hypercholesterolemia (FH) is the most common and autosomal dominant disorder. APOB gene is one of important genes related to susceptibility FH. APOB is a large glycoprotein that plays an important role in metabolism of lipoprotein in the human body. The small changes in the structure and function of APOB can cause major problems in lipids metabolism. APOB48 is required for the production of chylomicrons in the small intestine and APOB100 is essential in liver for the production of Very Low Density Lipoprotein(VLDL) and also,APOB100 is a ligand for LDLR that mediate LDL endocytosis. Rs515135 is a single nucleotide polymorphism that occurs at the 5 'end of APOB and rs693 occurs in the middle of this gene. Materials and methods: In this study, rs693 and rs515135 in APOB gene were analyzed in 120 cases with familial hypercholesterolemia and 120 controls. Polymorphism was identified using RFLP-PCR method. The PCR product was digested with specific restriction enzyme for recognition of each single nucleotide polymorphism. Results: This case-control study was analyzed by odds-ratio(ORs)with95% Confidence Intervals(CI) to reveal the association of the 2 SNPs with familiar hypercholostermia susceptibility.Statistical analysis showed that genetic frequencies for these SNPs were in Hardy-Wienberg equilibrium. Conclusion: According to this study,there was no significant relationship with the occurrence of rs515135 and familiar hypercholesterolemia. Furthermore, it seems the dominant model of T allele occurrence has a protective role in emergence of disease.
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نویسندگان مقاله | Fateme Karami


| Iman Salahshourifar


| Masoud Houshmand


نشانی اینترنتی http://celljournal.org/journal/article/abstract/5692
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/16/article-16-1043618.pdf
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