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Investigation of rs 515135 and rs 639 varation in APOB gen in Familial hypercholesterolemia patients with comparison to the healthy controls

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Year: 2017
Present: پوستري
COI code: IPMCMED02_022
Paper Language: English

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Authors Investigation of rs 515135 and rs 639 varation in APOB gen in Familial hypercholesterolemia patients with comparison to the healthy controls

  Parvin Pishva - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
  Masoumeh Dehghan Manshadi - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
  Vadieh Ghodsinezhad - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
  Arash Kadivari - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran

Abstract:

Familial hypercholesterolemia (FH) is the most common an autosomal dominant disorder. APoB gene is one of important gene that is related to susceptibility FH. APOB is a large glycoprotein that plays an important role in metabolism of lipoprotein in human’s body. APOB100 is essential in liver for produce Very Low Density Lipoprotein(VLDL) and also APOB100 is a ligand for LDLR that mediate LDL endocytosis. Rs515135 is a single nucleotide polymorphisms that happened at the 5 end of APOB and rs693 is occur in the Exon of this gene.In this study rs693 and rs515135 in gene APOB analyzed in 120 cases with familial hypercholesterolemia and 120 control. Polymorphism was identified by the RFLP-PCR method. The PCR product was digested with specific restriction enzyme for recongnation of each single nucleotide polymorphism. In rs515135 the pattern of enzyme digestion showed that genotype frequency of GG in case group were 68.33%, GA 29.17% and AA 2.5% and 70.83%,27.5% and 1.67% for the controls respectively. In rs693 the genotype frequency of CC in case group were 70%, CT 26.67% and TT 3.33% and the percentage of genotype pattern in control group were 85.83%, 13.33% and 0.83% respectively.For confirmation of the results digestion, some samples were sent for sequencing.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

Keywords:

Familial hypercholestrerolemia (FH) ,APOLIPOPROTEINB ,gene,Single nucleotide polymorphism

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Pishva, Parvin; Masoumeh Dehghan Manshadi; Vadieh Ghodsinezhad & Arash Kadivari, 2017, Investigation of rs 515135 and rs 639 varation in APOB gen in Familial hypercholesterolemia patients with comparison to the healthy controls, 2nd International Personalized Medical Congress, تهران, دانشگاه علوم پزشكي بقيه الله(عج), https://www.civilica.com/Paper-IPMCMED02-IPMCMED02_022.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Pishva, Parvin; Masoumeh Dehghan Manshadi; Vadieh Ghodsinezhad & Arash Kadivari, 2017)
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Paper No.: 6411
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