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研究遗传性骨关节炎的分子生物学方法。

Molecular biological approaches to the study of heritable osteoarthritis.

作者信息

Jimenez S A

机构信息

Rheumatology Research, Thomas Jefferson University, Philadelphia, PA 19107.

出版信息

J Rheumatol Suppl. 1991 Feb;27:7-9.

PMID:1674006
Abstract

Certain forms of osteoarthritis (OA) are inherited in a dominant Mendelian pattern suggesting that defects in one or more of the genes encoding for the structural components of articular cartilage may cause premature cartilage degeneration. Recent advances in molecular biology make it possible to examine the hypothesis that inherited OA is caused by mutations in the genes expressed in cartilage. These methods permit the identification of precise molecular defects and, eventually, may provide tests for the definitive diagnosis of inherited OA. Application of these tests to a general population of patients with OA may establish whether common forms of OA are also caused by mutations in these genes.

摘要

某些形式的骨关节炎(OA)以孟德尔显性模式遗传,这表明编码关节软骨结构成分的一个或多个基因存在缺陷可能导致软骨过早退化。分子生物学的最新进展使得检验遗传性OA是由软骨中表达的基因突变引起这一假说成为可能。这些方法能够识别精确的分子缺陷,并最终可能为遗传性OA的确诊提供检测手段。将这些检测应用于普通OA患者群体,或许可以确定常见形式的OA是否也由这些基因的突变所致。

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