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胰岛素受体基因与19号染色体上补体成分3、低密度脂蛋白受体、载脂蛋白C2及强直性肌营养不良基因座的连锁关系。

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19.

作者信息

Shaw D J, Meredith A L, Brook J D, Sarfarzi M, Harley H G, Huson S M, Bell G I, Harper P S

出版信息

Hum Genet. 1986 Nov;74(3):267-9. doi: 10.1007/BF00282546.

Abstract

Myotonic dystrophy is associated with disturbances in the insulin response, possibly due to an abnormality of the insulin receptor. Both the myotonic dystrophy (DM) and insulin receptor (INSR) genes are on chromosome 19. Using a cloned gene probe for INSR, we have studied its linkage relationships with the DM locus and other chromosome 19 markers. The results show that INSR is not closely linked to DM, but is located very close to C3, in the region 19pter-19p13.2. This implies that the basic genetic defect which causes DM is not directly responsible for the disturbed insulin response in these patients.

摘要

强直性肌营养不良与胰岛素反应紊乱有关,可能是由于胰岛素受体异常所致。强直性肌营养不良(DM)基因和胰岛素受体(INSR)基因均位于19号染色体上。我们使用INSR的克隆基因探针,研究了它与DM基因座及其他19号染色体标记的连锁关系。结果显示,INSR与DM并非紧密连锁,而是位于非常靠近C3的位置,在19pter - 19p13.2区域。这意味着导致DM的基本遗传缺陷并非这些患者胰岛素反应紊乱的直接原因。

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