Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay
Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay
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DOI：
10.1016/j.mcp.2006.07.003
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发表时间：
2007-02-01
影响因子：
3.3
通讯作者：
Gruffydd-Jones, Timothy J.
中科院分区：
文献类型：
--
作者：
Helps, Chris R.;Tasker, Severine;Gruffydd-Jones, Timothy J.
常染色体显性遗传性多囊肾病(AD-PKD)是猫最常见的遗传性疾病，尤其影响波斯人。直到最近，这种情况都是通过肾脏超声筛查来诊断的。随着导致AD-PKD的基因突变的确定，现在可以使用先进的分子技术来筛查这种疾病。我们建立了一种快速、灵敏、特异的实时定量聚合酶链式反应基因分型方法，可以检测与AD-PKD相关的单核苷酸多态。在72只接受AD-PKD超声筛查的英国波斯和外来短毛猫中，29只被发现患有这种疾病，41只呈阴性，2只可疑。最近发表的PCR-RFLP方法显示，AD-PKD突变在所有29只患病猫中都存在，而在41只阴性猫和2只可疑猫中不存在。我们的实时定量聚合酶链式反应基因分型检测结果与聚合酶链式反应-限制性片段长度多态性分析结果完全一致。在2005年4月至2006年1月分析的600份血液或口腔拭子中，发现165份AD-PKD阳性，435份阴性，患病率为27.5%。所有194只患有AD-PKD的猫都被发现是该突变的杂合子。(C)2006爱思唯尔有限公司。保留所有权利。
Autosomal-dominant polycystic kidney disease (AD-PKD) is the most prevalent inherited genetic disease of cats, particularly affecting Persians. Until recently the condition has been diagnosed by renal ultrasound screening. With the identification of the genetic mutation responsible for AD-PKD it is now possible to use advanced molecular techniques to screen for the disease. We have developed a rapid, sensitive and specific real-time PCR genotyping assay that can detect the single nucleotide polymorphism responsible for AD-PKD. Of 72 UK Persian and Exotic Shorthair cats submitted for AD-PKD ultrasound screening, 29 were found to have the disease, 41 were negative and 2 were equivocal. The recently published PCR-RFLP method showed the AD-PKD mutation to be present in all 29 diseased cats and absent in the 41 negative and 2 equivocal cats. Our real-time PCR genotyping assay was in complete agreement with the PCR-RFLP results. Of 600 blood or buccal swabs analysed from April 2005 to January 2006, 165 were found to be AD-PKD positive and 435 were negative, giving a prevalence of 27.5%. All 194 cats with AD-PKD were found to be heterozygous for the mutation. (c) 2006 Elsevier Ltd. All rights reserved.