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编码人低分子量胰岛素样生长因子结合蛋白(IGF-BP25)的基因:定位于7p12-p13区域及一种DNA多态性的描述

The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism.

作者信息

Alitalo T, Kontula K, Koistinen R, Aalto-Setälä K, Julkunen M, Jänne O A, Seppälä M, de la Chapelle A

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Hum Genet. 1989 Nov;83(4):335-8. doi: 10.1007/BF00291377.

Abstract

The low-molecular weight insulin-like growth-factor binding protein (IGF-BP25) is synthesized by human liver, secretory endometrium and decidua, and is also present in human serum. It binds insulin-like growth factors IGF-I and IGF-II with high affinity, and is proposed to act as a paracrine regulator of cell growth. In situ hybridization studies with a cDNA encompassing the entire protein coding region of IGF-BP25 localized the gene to bands p12-p13 on chromosome 7. Southern blot analysis with the enzyme BglII revealed a common restriction fragment length polymorphism: the presence of the polymorphic BglII site results in the formation of two fragments 4.6 kb and 1.6 kb in size whereas its absence produces a single 6.2 kb fragment. The frequencies of the two alleles were 0.73 and 0.27, respectively. IGF-BP25 constitutes a useful genetic marker for the proximal short arm of chromosome 7.

摘要

低分子量胰岛素样生长因子结合蛋白(IGF - BP25)由人肝脏、分泌期子宫内膜和蜕膜合成,也存在于人的血清中。它以高亲和力结合胰岛素样生长因子IGF - I和IGF - II,并被认为作为细胞生长的旁分泌调节因子发挥作用。用包含IGF - BP25整个蛋白质编码区的cDNA进行原位杂交研究,将该基因定位到7号染色体的p12 - p13带。用BglII酶进行的Southern印迹分析揭示了一种常见的限制性片段长度多态性:多态性BglII位点的存在导致形成两个大小分别为4.6 kb和1.6 kb的片段,而其缺失则产生一个单一的6.2 kb片段。两个等位基因的频率分别为0.73和0.27。IGF - BP25构成了7号染色体近端短臂的一个有用的遗传标记。

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