首页> 外国专利> TSHRThyroid Stimulating Hormone Receptor DIO2type 2 iodothyronine deiodinase SNP Information providing method for drug treatment decisions of hypothyroidism patients by TSHR mutations and DIO2 T92A single nucleotide polymorphism detection

TSHRThyroid Stimulating Hormone Receptor DIO2type 2 iodothyronine deiodinase SNP Information providing method for drug treatment decisions of hypothyroidism patients by TSHR mutations and DIO2 T92A single nucleotide polymorphism detection

机译:TSHRT促甲状腺激素受体DIO2type 2碘甲状腺素脱碘酶SNP通过TSHR突变​​和DIO2 T92A单核苷酸多态性检测为甲状腺功能减退症患者的药物治疗决策提供信息的方法

摘要

The present invention relates to hypothyroidism treatment, and more specifically, to a microarray and kit for diagnosing a patient with hypothyroidism that needs, other than mono-therapy of administering L-T4 (levothyroxine) alone, co-administration of L-T3 (liothyronine), and a diagnosis method using the same. In the present invention, it was confirmed that the expression and activity of DIO2 protein due to thyroid stimulating hormone (TSH) are significantly inhibited when C.274AG (A on the DIO2 gene encoding the 274th base of the mRNA sequence encoding the DIO2 protein changes to G) homozygote SNP is present in type 2 iodothyronine deiodinase (DIO2) gene, and C.1349GA (A on the TSHR gene encoding the 1349th base of the mRNA sequence encoding the TSHR protein changes to G) heterozygote loss-of-function mutation is present in thyroid stimulating hormone receptor (TSHR) gene. Thus, the SNP of the DIO2 gene and TSHR mutation may be beneficially used in the diagnosis of a patient with hypothyroidism that needs the co-administration of L-T3.
机译:本发明涉及甲状腺功能减退症的治疗,更具体地,涉及一种用于诊断患有甲状腺功能减退症的患者的微阵列和试剂盒,除了单独施用L-T4(左甲状腺素)的单一疗法外,还需要L-T3(碘甲状腺素)的共同施用),以及使用该诊断方法的诊断方法。在本发明中,证实了当C.274A> G(在编码DIO2的mRNA序列的编码第274个碱基的DIO2基因上的A(C.274A> G)时,由于甲状腺刺激激素(TSH)引起的DIO2蛋白的表达和活性被显着抑制。 2型碘甲状腺素脱碘酶(DIO2)基因中存在纯合子SNP,C.1349G> A(编码TSHR蛋白的mRNA序列的第1349个碱基的TSHR基因上的A变为G)杂合子丢失-甲状腺刺激激素受体(TSHR)基因中存在功能突变。因此,DIO2基因的SNP和TSHR突变​​可有益地用于诊断需要L-T3并用的甲状腺功能减退症患者。

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