检测肥厚型心肌病和非肥厚型心肌病波斯猫肌球蛋白结合蛋白 C3 基因的多态性

Saeed Heydaryan, Dariush Shirani, Arash Ghalyanchi Langeroudi, S. Bokaie, Mehdi Hassankhani, Ali Roustaei, Leyili Halimiasl
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摘要

背景:在猫科动物中,肥厚型心肌病 (HCM) 是一种常见的心脏病。在布偶猫和缅因浣熊中发现了编码心脏肌球蛋白结合蛋白 C(MYBPC3)的基因突变。目标:相信其他品种的 HCM 也会遗传。方法:采集 2 只未受影响的 HCM 波斯种猫和 7 只受影响的 HCM 波斯种猫的血液样本提取 DNA。除了进行传统的聚合酶链反应外,还进行了 DNA 测序。利用序列变化检测 MYBPC3 基因中的单核苷酸多态性,并根据 Acc.XM_019812396.1,并与文献中已确定的品种变异和对照样本进行比较。结果:虽然在受影响和未受影响的波斯猫中发现了许多单核苷酸多态性,但没有观察到导致 HCM 的致病基因突变。结论:在该品种中,HCM 似乎并非仅由该心脏基因突变引起。应该对潜在的心脏基因进行研究,以发现导致波斯猫患心脏病的其他遗传原因。
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Detecting Polymorphism of Myosin-binding Protein C3 Gene in Persian Breed Cat With and Without Hypertrophic Cardiomyopathy
Background: In cats, hypertrophic cardiomyopathy (HCM) stands out as a prevailing heart disease. The mutations in the gene that encodes cardiac myosin-binding protein C (MYBPC3) have been detected in the Ragdoll and Maine Coon breeds. Objectives: HCM is believed to be hereditary in other breeds, too. Methods: Blood samples were collected for DNA extraction from 2 unaffected and 7 affected Persian breed cats with HCM. Besides accomplishing conventional polymerase chain reaction, DNA sequencing was performed. The sequence changes were utilized to detect single nucleotide polymorphisms in the MYBPC3 gene and predict amino acid substitutions based on the Acc. No. XM_019812396.1 and comparisons with the literature on identified breed variants and control samples. Results: Although many single nucleotide polymorphisms were found in the affected and unaffected Persian cats, no causative mutation for HCM was observed. Conclusion: In this breed, HCM does not seem to be caused solely by mutations in this cardiac gene. Potential cardiac genes should be investigated to uncover other genetic reasons for this cardiac disease in the Persian cat breed.
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来源期刊
Iranian Journal of Veterinary Medicine
Iranian Journal of Veterinary Medicine Veterinary-General Veterinary
CiteScore
0.90
自引率
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0
审稿时长
6 weeks
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