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在患有多囊肾病的牛头梗犬的多囊肾病基因1编码序列中未发现与疾病相关的突变。

No disease-associated mutations found in the coding sequence of the canine polycystic kidney disease gene 1 in Bull Terriers with polycystic kidney disease.

作者信息

O'Leary C A, Atwell R B, Laing N G

机构信息

School of Veterinary Science, The University of Queensland, Brisbane, Australia.

出版信息

Anim Genet. 2003 Oct;34(5):358-61. doi: 10.1046/j.1365-2052.2003.01013.x.

Abstract

The aim of this study was to identify possible disease-associated mutations in the canine homologue of the polycystic kidney disease gene 1 (PKD1) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the blood or renal tissue of five Bull Terriers with the disease and four close relatives without the disease. Reverse transcription, PCR and 3' rapid amplification of cDNA ends were used to amplify the coding and 3' untranslated regions of this transcript. Comparison of PKD1 sequence between the affected and unaffected Bull Terriers, revealed six polymorphisms, but no disease-associated mutations.

摘要

本研究的目的是在患有常染色体显性多囊肾病的牛头梗中,鉴定多囊肾病基因1(PKD1)犬类同源物中可能与疾病相关的突变。从五只患有该病的牛头梗及其四只未患病的近亲的血液或肾组织中获取信使核糖核酸。采用逆转录、聚合酶链反应及3' 端cDNA末端快速扩增技术,扩增该转录本的编码区和3' 非翻译区。比较患病和未患病牛头梗的PKD1序列,发现六个多态性位点,但未发现与疾病相关的突变。

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