Identification of two novel mutant alleles of human thiopurine
S-methyltransferase, and diagnostic uses thereof
    4.
    发明授权
    Identification of two novel mutant alleles of human thiopurine S-methyltransferase, and diagnostic uses thereof 失效
    鉴定人类硫嘌呤S-甲基转移酶的两种新型突变体等位基因及其诊断用途

    公开(公告)号:US5856095A

    公开(公告)日:1999-01-05

    申请号:US514921

    申请日:1995-08-14

    Abstract: Mutants of thiopurine S-methyltransferase (TPMT) are described. TPMTA mutant has a point mutation at cDNA position 238 (G.sup.238 .fwdarw.C), and TPMTB involves two nucleotide transitions at cDNA positions 460 (G.sup.460 .fwdarw.A) and 719 (A.sup.719 .fwdarw.G). TPMTB is the predominant mutant allele associated with human TPMT-deficiency which can cause potentially fatal toxicity when patients are treated with mercaptopurine, azathioprine, or thioguanine. The mutant alleles as well as PCR fragments, mutant proteins and antibodies therefor, together with kits and methods for assaying the TPMT genotype of individual patients are disclosed.

    Abstract translation: 描述了硫嘌呤S-甲基转移酶(TPMT)的突变体。 TPMTA突变体在cDNA位置238(G238-> C)处具有点突变,并且TPMTB涉及cDNA位置460(G460→A)和719(A719→G)两个核苷酸转换。 TPMTB是与人类TPMT缺乏相关的主要突变体等位基因,当患者用巯嘌呤,硫唑嘌呤或硫鸟嘌呤治疗时,可引起潜在的致命毒性。 公开了突变等位基因以及PCR片段,突变蛋白和其抗体,以及用于测定个体患者的TPMT基因型的试剂盒和方法。

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