Mutation analysis of candidate genes in familial hypercholesterolemia in an affected family in Alborz Province
- سال انتشار: 1397
- محل انتشار: سومین کنگره بین المللی پزشکی شخصی ایران
- کد COI اختصاصی: IPMCMED03_075
- زبان مقاله: انگلیسی
- تعداد مشاهده: 501
نویسندگان
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran- Department of Biochemistery, Genetics and Nutrition, Faculty of Medicine, Genetics Branch, Alborz University of Medical Sciences, Karaj, Iran Affiliation(Times
Department of
چکیده
Introduction: Familial Hypercholesterolemia (FH) is an autosomal, dominant genetic disorder that associated with premature cardiovascular disease (CVD). Mutations in the LDLR, APOB and PCSK9 genes cause the FH phenotype, but in a20% of FH patients, mutations in other genes cause FH.Methods: We investigated the genetic basis of an ADH phenotype in an Iranian family via next-generation exome sequencing with panel of hyperlipidemia. We performed sanger sequencing to confirm our result, and to evaluate co-segregation in the family.Results: We identified a mutation in the APOE gene, c.500_502del /p.Leu167del, confirmed with sanger sequencing, which was co-segregated in three individuals of the family from three generations. Conclusion: Because heritability and mutation are also influenced by various environmental factors including diet and other genes, performing routine tests to determine the level of LDL and cholesterol due to its high sensitivity and low profile for early diagnosis and adequate timely treatment are not adequate. And precise molecular testing is required because of the sensitivity and specificity of 100% to determine genes and common mutations and to screening the genetic cause of the disease and, consequently, the correct treatment. Extensive variation in the types of genes involved in FH and their mutations requires the necessity of regional testing and determining the prevalence of various mutations and then performing routine tests based on those types of mutations.This in-frame mutation identified here, which is the first report in Iran, confirms previous reports that ADH can be caused by mutations within the APOE gene and strongly introduces it as the 4th gene that must be checking in genetic investigating of FH.کلیدواژه ها
familial hyperchlosterolemia, APOE gene ، mutation, cardio vascular disease, screening, next generation sequencingمقالات مرتبط جدید
اطلاعات بیشتر در مورد COI
COI مخفف عبارت CIVILICA Object Identifier به معنی شناسه سیویلیکا برای اسناد است. COI کدی است که مطابق محل انتشار، به مقالات کنفرانسها و ژورنالهای داخل کشور به هنگام نمایه سازی بر روی پایگاه استنادی سیویلیکا اختصاص می یابد.
کد COI به مفهوم کد ملی اسناد نمایه شده در سیویلیکا است و کدی یکتا و ثابت است و به همین دلیل همواره قابلیت استناد و پیگیری دارد.