全身性甲状腺激素抵抗患者的表型变异性。
Phenotypic variability in patients with generalised resistance to thyroid hormone.
作者信息
Pohlenz J, Wirth S, Winterpacht A, Wemme H, Zabel B, Schönberger W
机构信息
Children's Hospital of the Johannes-Gutenberg-University, Mainz, Germany.
出版信息
J Med Genet. 1995 May;32(5):393-5. doi: 10.1136/jmg.32.5.393.
Abstract
Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.
摘要
已确定全身性甲状腺激素抵抗（GRTH）与人类甲状腺受体β1基因的遗传连锁关系。迄今为止，已记录了几个家族中的38种不同突变。我们报告了一个患有GRTH的家族，该家族在外显子9的第1234位核苷酸处发生腺嘌呤替代鸟嘌呤，导致第317位密码子处的苏氨酸替代丙氨酸。这种突变已在不同表型中被描述，这表明GRTH的异质性可能是多种遗传因素的结果。
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本文引用的文献
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