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澳大利亚原住民低血清甲状腺素结合球蛋白水平的分布与遗传:一种新的基因变异

Distribution and inheritance of low serum thyroxine-binding globulin levels in Australian Aborigines: a new genetic variation.

作者信息

Watson F, Dick M

出版信息

Med J Aust. 1980 Oct 4;2(7):385-7. doi: 10.5694/j.1326-5377.1980.tb131879.x.

Abstract

Evidence is presented that low serum thyroxine-binding globulin (TBG) levels in Aborigines are widely distributed throughout Australia, and that these are inherited rather than acquired. Levels of TBG in children, and lack of any correlation of low TBG levels with alcohol consumption or liver dysfunction, suggest that the low levels are not acquired in adult life. Genetic studies in eight families indicate (with one exception) an autosomal dominant pattern of inheritance with direct male-to-male transmission. These findings are in marked contrast to the much rarer X-linked pattern of inheritance of low TBG levels in Caucasians. This type of prevalent and inherited low level of TBG in serum appears so far to be unique to the Aboriginal race. The synthesis (or degradation) of TBG may be controlled by an autosomal gene in Aborigines.

摘要

有证据表明,澳大利亚原住民血清甲状腺素结合球蛋白(TBG)水平较低的情况在澳大利亚各地广泛存在,且这些低水平是遗传而非后天获得的。儿童的TBG水平以及低TBG水平与饮酒或肝功能障碍之间缺乏任何相关性,表明低水平并非在成年期获得。对八个家庭的基因研究表明(有一个例外),存在常染色体显性遗传模式,且有直接的男性对男性的遗传传递。这些发现与高加索人中罕见得多的低TBG水平的X连锁遗传模式形成鲜明对比。迄今为止,这种血清中普遍存在且遗传的低TBG水平似乎是原住民种族所特有的。在原住民中,TBG的合成(或降解)可能受一个常染色体基因控制。

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