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EPIDEMIOLOGIC CLINICAL GENETIC FEATURES OF SYSTEMIC SCLEROSIS IN TWINS

EPIDEMIOLOGIC CLINICAL GENETIC FEATURES OF SYSTEMIC SCLEROSIS IN TWINS
双胞胎系统性硬化症的流行病学临床遗传特征
批准号:
6219242
负责人:
TIMOTHY M. WRIGHT
金额:
$0.3万
依托单位国家:
美国
项目类别:
财政年份:
1998
资助国家:
美国
项目状态:
已结题
起止时间:
1998-12-01 至 1999-11-30

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中文摘要
翻译
系统性硬化症(SSc)或硬皮病是一种病因不明的自身免疫性结缔组织疾病。双胞胎为评估遗传与获得性遗传/环境因素在疾病发展中的作用提供了独特的机会,并为检查组织水平上基因表达的变化提供了理想的对照。本研究的目的是:(1)对SSc双胞胎队列进行检查,以确定疾病的一致性;(2)确诊的SSc双胞胎(同卵和异卵,一致和不一致)将通过详细的体检和实验室检查(包括外周血和真皮成纤维细胞的细胞遗传学分析,真皮成纤维细胞差异基因表达分析)进一步分析。
英文摘要
Systemic sclerosis (SSc) or scleroderma is an autoimmune connective tissue disease of unknown etiology. Twins provide a unique opportunity to assess the role of inherited vs. acquired genetic/environmental factors in disease development and provide the ideal controls for examining changes in gene expression at the tissue level. The aims of the proposed study are: (1) examination of a cohort of twins with SSc to determine concordance for disease; (2) confirmed pairs of twins with SSc (monozygotic and dizygotic, concordant and discordant) will be further analyzed by a detailed physical and laboratory examination (including cytogenetic analysis on peripheral blood and dermal fibroblasts, analysis of differential gene expression in dermal fibroblasts).
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海外基金