家犬高尿酸血症(Canis lupus familiaris)

J. Gruszczyńska, Kamila Szydłowska, M. Łopieńska, K. Siewruk, Paulina Jundziłł-Bogusiewicz, B. Grzegrzółka
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引用次数: 0

摘要

血浆尿酸盐水平升高与高尿酸血症等代谢性疾病有关。尿素在肾小管中的长期沉积会导致痛风。由于GLUT9(葡萄糖转运蛋白9)蛋白的适当转运活性,维持了体内尿酸盐的稳态。GLUT9由SLC2A9基因编码,该基因在肾脏和肝脏中表达。SLC2A9 c.616GG>T突变导致GLUT9蛋白的氨基酸序列发生变化(p.Cys–188Phe,进而导致高尿酸血症。使用分子方法鉴定SLC2A99基因的突变。在许多品种的家狗(超过20只)中都发现了这种突变,但在以下品种中记录的隐性纯合子数量最高:斑点狗,俄罗斯黑梗和英国斗牛犬。
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Hyperuricosuria in the domestic dog (Canis lupus familiaris)
Elevated plasma urate levels are associated with metabolic diseases such as hyperuricosuria. Long-term deposition of urea in the renal tubules can cause gout. Due to proper transport activity of GLUT9 (glucose transporter 9) protein, urate homeostasis in the body is maintained. GLUT9 is encoded by the SLC2A9 gene, which is expressed in the kidney and liver. The SLC2A9 c.616GG> T mutation results in a change in the amino acid sequences of the GLUT9 protein (p.Cys–188Phe, which in turn leads to hyperuricosuria. Molecular methods were used to identify the mutation in SLC2A9 gene. The occurrence of this mutation was found in many breeds of domestic dog (over 20), but the highest number of recessive homozygotes was recorded in the breeds: Dalmatian, Russian Black Terrier and English Bulldog.
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审稿时长
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