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近交系兔睫状体上皮中牛磺酸转运存在遗传性缺陷的证据。

Evidence for an hereditary defect in taurine transport in the ciliary epithelium of an inbred strain of rabbits.

作者信息

Harris T M, Nance C S, Sheppard L B, Fox R R

出版信息

J Inherit Metab Dis. 1983;6(4):163-6. doi: 10.1007/BF02310874.

Abstract

The concentration of taurine in the aqueous humour and serum of 21 rabbits with hereditary buphthalmia (Bu rabbits-genotype bu/bu) was compared with the aqueous and serum taurine levels of eight strain-related normal rabbits (JAX) and nine non-strain-related normal rabbits (MCV). There was a significant difference in the mean aqueous taurine concentration in each of the three groups. The Bu rabbits had only 29% of the MCV rabbits' level while the JAX rabbits were intermediate with 56% of the MCV level. It is suggested that some of the JAX rabbits may be heterozygous and the Bu rabbits homozygous for a semi-dominant allele of a gene that is less efficient in taurine transport in the ciliary epithelium than the normal allele represented by the MCV animals.

摘要

将21只患有遗传性牛眼症的兔子(牛眼兔——基因型bu/bu)房水和血清中的牛磺酸浓度,与8只品系相关的正常兔子(JAX)和9只非品系相关的正常兔子(MCV)的房水和血清牛磺酸水平进行了比较。三组中每组的平均房水牛磺酸浓度存在显著差异。牛眼兔的水平仅为MCV兔的29%,而JAX兔处于中间水平,为MCV水平的56%。有人提出,一些JAX兔可能是杂合子,而牛眼兔是一个基因的半显性等位基因的纯合子,该基因在睫状体上皮中转运牛磺酸的效率低于MCV动物所代表的正常等位基因。

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