Suppr超能文献

巴西的波斯猫和与波斯猫有关的猫中常染色体显性多囊肾病的流行情况。

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil.

机构信息

Laboratório de Patologia Morfológica e Molecular, Departamento de Patologia, Faculdade de Medicina Veterinária e Zootecnia - FMVZ, Universidade de São Paulo - USP, Av. Prof. Dr. Orlando Marques de Paiva, 87, Cidade Universitária, CEP 05508-270, São Paulo, SP, Brasil.

Gattos - Clínica Especializada em Medicina Felina, Av. Vereador José Diniz, 3165, Campo Belo, CEP 04603-002, São Paulo, SP, Brasil.

出版信息

Braz J Biol. 2021 Mar-May;81(2):392-397. doi: 10.1590/1519-6984.227131.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

摘要

常染色体显性多囊肾病(ADPKD)是猫最常见的遗传疾病。然而,巴西对此病的流行率数据很少。通过对波斯猫和波斯相关品种的 PKD1 基因第 29 外显子的 C 到 A 颠换进行分子基因分型,以确定巴西人群中 ADPKD 的流行率。使用 PCR-RFLP 方法从外周全血或口腔拭子样本中提取基因组 DNA,以扩增 PKD1 基因的第 29 外显子。在总共 616 只动物中,537 只波斯猫和 17 只喜马拉雅猫中有 27 只显示出 PKD1 基因第 29 外显子位置 3284 的单核苷酸变异(C 到 A)。这种致病性变异仅在杂合状态下被识别。波斯猫和波斯相关品种的 ADPKD 患病率分别为 5.03%和 1.6%。猫的品种、性别或年龄与 ADPKD 患病率之间没有显著关联。值得注意的是,在巴西观察到的波斯猫和波斯相关品种的 ADPKD 患病率低于世界其他地区报告的患病率。这一发现可能与遗传咨询有关,随后选择无 ADPKD 的猫进行繁殖。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验