Muramatsu Y, Yamada T, Miura M, Sakai T, Suzuki Y, Serikawa T, Tanzi R E, Matsumoto K
Institute for Animal Experimentation, University of Tokushima School of Medicine, Japan.
Gastroenterology. 1994 Oct;107(4):1189-92. doi: 10.1016/0016-5085(94)90247-x.
BACKGROUND/AIMS: The Long-Evans Cinnamon (LEC) mutant rat shows an excess copper accumulation in the liver and low serum ceruloplasmin activity. The disorder is controlled by a single autosomal recessive gene designated as hts. Wilson's disease is an autosomal recessive disorder of copper metabolism characterized by abnormal copper accumulation in the liver and low serum ceruloplasmin activity. The gene responsible for Wilson's disease has recently been isolated. The present study was designed to examine whether the LEC rat is an ideal animal model for Wilson's disease from a genetic point of view.
For chromosomal mapping of hts, genetic linkage analysis using rat microsatellite marker loci was performed. Furthermore, cosegregation between hts and a rat counterpart of the Wilson's disease gene was analyzed.
hts was finely mapped to rat chromosome 16. Complete cosegregation between hts and a rat counterpart of the Wilson's disease gene was detected.
hts is likely to correspond to a rat homologue of the Wilson's disease gene. The present results allow us to propose that the LEC rat is an ideal animal model for Wilson's disease.
背景/目的：长-伊文斯肉桂色（LEC）突变大鼠肝脏中铜蓄积过多，血清铜蓝蛋白活性降低。该病症由一个名为hts的常染色体隐性基因控制。威尔逊氏病是一种铜代谢的常染色体隐性病症，其特征为肝脏中铜异常蓄积以及血清铜蓝蛋白活性降低。导致威尔逊氏病的基因最近已被分离出来。本研究旨在从遗传学角度检验LEC大鼠是否为威尔逊氏病的理想动物模型。
为了对hts进行染色体定位，利用大鼠微卫星标记位点进行了遗传连锁分析。此外，还分析了hts与威尔逊氏病基因的大鼠对应基因之间的共分离情况。
hts被精确地定位到大鼠的16号染色体上。检测到hts与威尔逊氏病基因的大鼠对应基因之间完全共分离。
hts可能对应于威尔逊氏病基因的大鼠同源基因。目前的结果使我们能够提出LEC大鼠是威尔逊氏病的理想动物模型。
