Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
نویسندگان
چکیده
منابع مشابه
Uncommon allele in apo AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy.
Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of...
متن کاملAssociation between genetic variations of apo AI-CIII-AIV cluster gene and hypertriglyceridemic subjects.
Several studies have suggested that genetic variations of the apolipoprotein (apo) AI-CIII-AIV cluster gene are associated with hyperlipidemia or atherosclerosis. These investigations were carried out mainly with Caucasian groups; there have been few associated studies involving non-Caucasian groups. This study was conducted to elucidate the association between five restriction fragment length ...
متن کاملبررسی ارتباط پلی‌مورفیسم‌های خوشه‌ی ژنی Apo AI-CIII-AIV با سطح لیپیدهای سرم در جمعیت تهرانی
چکیدهمقدمه: اختلال در میزان لیپیدها و آپولیپوپروتئین‌ها از عوامل خطرساز بیماری قلبی ـ عروقی محسوب می‌شود و خوشه‌ی ژنی APOAI-CIII-AVIنقش مهمی در تنظیم سوخت و ساز و میزان لیپیدها دارد. هدف پژوهش حاضر، بررسی ارتباط 5 پلی‌مورفیسم در ناحیه‌ی ژنی Apo11q با میزان لیپیدها در سرم می‌باشد. مواد و روش‌ها: مطالعه‌ی مقطعی حاضر روی 823 نفر (340 مرد و 483 زن) از جمعیت مورد مطالعه‌ی قند و لیپید تهران (TLGS)...
متن کاملComplex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes.
Familial combined hyperlipidemia (FCH) is a common genetic lipid disorder in Western societies. In a recent report (Dallinga-Thie, G.M., X.D. Bu, M. van Linde-Sibenius Trip, J.I. Rotter, A.J. Lusis, and T.W.A. de Bruin. J. Lipid Res., 1996, 36:136-147) we have studied three restriction enzyme polymorphisms: XmnI, and MspI sites 5' of the apo AI gene and SstI site in the 3' untranslated region o...
متن کاملCongenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation
BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
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ژورنال
عنوان ژورنال: Sao Paulo Medical Journal
سال: 1997
ISSN: 1516-3180
DOI: 10.1590/s1516-31801997000600007