缺乏nonautoimmune协会甲状腺机能亢进的疾病和人类的生殖系727年密码子多态性促甲状腺素受体在欧洲白人人口。
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赫曼Muhlberg T, K,小张W, Kirchberger M, Heberling HJ Heufelder AE
缺乏nonautoimmune协会甲状腺机能亢进的疾病和人类的生殖系727年密码子多态性促甲状腺素受体在欧洲白人人口。
中国性金属底座。2000年8月,85 (8):2640 - 3。
- PubMed ID
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10946859 (在PubMed]
- 文摘
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既定的人类TSH受体的激活突变基因(hTSHR)牵扯机能亢进的主要原因nonautoimmune甲状腺疾病。然而,这些突变患病率显著地理差异已被观察到。最近,生殖系的高频多态性在727密码子的胞质尾已经证明了hTSHR毒性多结节甲状腺肿患者。在目前的研究中,我们评估是否727密码子多态性与机能亢进有关甲状腺腺瘤。PCR限制性内切酶消化紧随其后被用于基因型128欧洲白种人有毒nonautoimmune甲状腺疾病患者(83年,有毒的腺瘤,31日毒性多结节甲状腺肿,与传播自主性和14)和比较他们的密码子727多态性频率与99名健康的对照和108甲状腺机能亢进的患者。个人都是来自一个相同的种族背景。PCR产物测序是用来证实突变分析。我们没有发现显著差异在727密码子多态性频率之间自主甲状腺功能障碍(13.3%)患者和健康对照组(16.2%;P = 0.57)。此外,有毒nonautoimmune甲状腺疾病的亚型(有毒腺瘤,13.2%; multinodular goiter, 9.6%; disseminated autonomy, 21.4%) were not related to significant differences in codon 727 polymorphism frequencies compared with the healthy control group (P = 0.67, P = 0.40, and P = 0.70, respectively). Additionally, there were no significant differences between patients with Graves' disease (21.3%) and healthy controls (P = 0.38). In conclusion, our data do not support an association between the codon 727 polymorphism of the hTSHR and toxic thyroid adenomas or toxic multinodular goiter in our study population. Thus, the codon 727 polymorphism of the hTSHR does not appear to be involved in the evolution of autoimmune or nonautoimmune hyperthyroidism in the European Caucasian population.