Collins B W, Goodman H O, Swanton C H, Remy C N
Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27103.
Clin Chem. 1988 Apr;34(4):671-5.
A previous study showed that significantly less taurine is excreted in the urine by epileptics than by control subjects. The difference is ascribed to genetic variation in taurine transport governed by a pair of codominant polymorphic alleles. The present study of plasma taurine concentrations and urinary taurine output confirms previous findings among epileptics and provides evidence that some anticonvulsant medications may affect taurine transport. The posited codominant alleles represent the first single-locus component in the polygenic complexes creating susceptibility to seizures and epitomizes the small additive effects classically attributed to such genes.
先前的一项研究表明,癫痫患者尿液中排出的牛磺酸明显少于对照组受试者。这种差异归因于由一对共显性多态性等位基因控制的牛磺酸转运的基因变异。目前对血浆牛磺酸浓度和尿牛磺酸排出量的研究证实了先前在癫痫患者中的发现,并提供了证据表明一些抗惊厥药物可能会影响牛磺酸的转运。假定的共显性等位基因代表了多基因复合物中导致癫痫易感性的首个单基因成分,并且体现了这类基因通常具有的微小累加效应。