兔遗传性大口畸形：一种下颌面骨发育不全的形式——特雷彻·柯林斯综合征的模型。

Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.

作者信息

Fox R R, Crary D D

出版信息

J Hered. 1979 Nov-Dec;70(6):369-72. doi: 10.1093/oxfordjournals.jhered.a109279.

DOI:10.1093/oxfordjournals.jhered.a109279

Abstract

Macrostomus in the rabbit was diagnosed externally by the presence of papillae at the corners of the mouth. Internally the effect is on the zygomatic complex and is extremely variable. Inheritance appears to be due to a single autosomal recessive gene with incomplete penetrance. We propose the symbol mst for the gene responsible for this condition. Evidence is presented to suggest that this gene is very likely in linkage group IV. Macrostomus in the rabbit is a model for the Treacher Collins syndrome, one form of mandibulofacial dysostosis in humans.

摘要

兔的大口畸形可通过嘴角处的乳头状物在外部进行诊断。在内部，其影响位于颧复合体，且差异极大。遗传似乎是由一个具有不完全外显率的常染色体隐性基因所致。我们提议用符号mst来表示导致这种状况的基因。有证据表明该基因很可能位于第四连锁群。兔的大口畸形是人类下颌面骨发育不全的一种形式——特雷彻·柯林斯综合征的模型。