文章基本信息

标题：A Novel Van91 I Polymorphism in the 1st Intron of the Parathyroid Hormone (PHT)/PTH-Related Peptide (PTHrP) Receptor Gene and Its Effect on the Urinary cAMP Response to PTH
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作者：Masayuki HEISHI ; Hiromitsu TAZAWA ; Takatoshi MATSUO 等
期刊名称：Biological and Pharmaceutical Bulletin
印刷版ISSN：0918-6158
电子版ISSN：1347-5215
出版年度：2000
卷号：23
期号：4
页码：386-389
DOI：10.1248/bpb.23.386
出版社：The Pharmaceutical Society of Japan
摘要：This study was designed to identify a parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor gene polymorphism in a healthy Japanese population. All Known 13 introns of this gene were amplified by PCR, except the 1st intron, which was amplified by the long-PCR method. No restriction fragment length polymorphisms (RFLPs) were detected by BsmI or XbaI in any of thses introns. Twenty-one other restriction enzymes (Hind III, Bgl II, Sty I, Pvu II, Eco81 I, Van91 I, BstX I, Sse8387 I, EcoR I, BamH I, Mbo II, Tth111 I, PshA I, Eam1105 I, Not I, Bgl I, Fok I, Sfi I, Apa I, Taq I) were tested on the 1st intron. Furthermore, digestion by Van91 I (CCANNNNNTGG) identified a single, two-allele polymorphism with a fragment of approximately 3.5 kb (V allele) or a fragment of 3.1 and 0.4 kb (υ allel). The frequency of the Van91 I polymorphism in 106 healthy Japanese bolunteers was 77.4% for type υυ, 19.8% for type Vυ and 2.8% for type VV. In addition, the urinary cAMP response to exogenous [1-34]PTH was studied in 17 healthy volunteers and found to be significantly greater in persons with type Vυ than type υυ (P<0.05). In conclusion, the Van91 I polymorphism of the PTH/PTHrP receptor gene can be used to study the role of polymorphism in various disorders involving PTH or PTHrP.
关键词：parathyoid hormone/PTH-Related Peptide receptor gene;polymorphism;long-PCR;restriction fragment length polymorphism;cAMP