کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5949986 1172394 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
چکیده انگلیسی

AimFamilial hypercholesterolemia (FH) is caused by mutations of FH genes, i.e. LDL-receptor (LDLR), PCSK9 and apolipoprotein B (ApoB) gene. We evaluated the usefulness of DNA analysis for the diagnosis of homozygous FH (homo-FH), and studied the frequency of FH in the Hokuriku district of Japan.MethodsTwenty-five homo-FH patients were recruited. LDLR mutations were identified using the Invader assay method. Mutations in PCSK9 were detected by PCR-SSCP followed by direct sequence analysis.ResultsWe confirmed 15 true homozygotes and 10 compound heterozygotes for LDLR mutations. Three types of double heterozygotes for LDLR and PCSK9 were found. No FH patients due to ApoB mutations were found. The incidences of homo-FH and hetero-FH in the Hokuriku district were 1/171,167 and 1/208, respectively.ConclusionsOur observations underlined the value of FH gene analysis in diagnosing homo-FH and confirmed extraordinarily high frequency of FH in the Hokuriku district of Japan.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Atherosclerosis - Volume 214, Issue 2, February 2011, Pages 404-407
نویسندگان
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