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对牛进行遗传性先天性肌阵挛和枫糖尿症的基因分型。

Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease.

作者信息

Healy P J, Dennis J A, Windsor P A, Pierce K D, Schofield P A

出版信息

Aust Vet J. 2002 Nov;80(11):695-7. doi: 10.1111/j.1751-0813.2002.tb11301.x.

Abstract

OBJECTIVE

To develop a routine procedure for establishing the inherited congenital myoclonus (ICM) genotype of cattle and to obtain an estimate of the prevalence of heterozygotes for ICM and maple syrup urine disease (MSUD) in Australian Poll Herefords.

DESIGN

A mismatch amplification procedure was developed to genotype for ICM. The ICM and MSUD genotypes of subjects from a 'neuraxial oedema' experimental breeding herd were investigated. Tail hair roots were used as a source of target DNA to determine the ICM and MSUD genotypes of 455 Poll Hereford bulls.

RESULTS

An Acc I mismatch procedure was found to be suitable to genotype cattle for the ICM alleles using tail hair roots as the source of DNA. Based on the prevalence of heterozygotes among saleyard and sale bulls in the early 1990s, and contemporary slaughter bulls, the frequencies of the alleles responsible for ICM and MSUD were estimated to be between 0.01 and 0.02.

CONCLUSION

This survey demonstrates that the mutations responsible for ICM and MSUD are present in the Australian Poll Hereford population. PCR tests could be used to advantage in differential diagnosis of neurological disease in newly born calves and in selection of Poll Hereford seed stock.

摘要

目的

制定一套常规程序以确定牛的遗传性先天性肌阵挛(ICM)基因型,并估算澳大利亚无角海福特牛中ICM和枫糖尿症(MSUD)杂合子的流行率。

设计

开发了一种错配扩增程序来对ICM进行基因分型。对一个“神经轴水肿”实验育种牛群中个体的ICM和MSUD基因型进行了研究。尾毛根部被用作目标DNA的来源,以确定455头无角海福特公牛的ICM和MSUD基因型。

结果

发现一种Acc I错配程序适合以尾毛根部作为DNA来源对牛的ICM等位基因进行基因分型。根据20世纪90年代初销售场和销售公牛以及当代屠宰公牛中杂合子的流行率,估计导致ICM和MSUD的等位基因频率在0.01至0.02之间。

结论

这项调查表明,导致ICM和MSUD的突变存在于澳大利亚无角海福特牛种群中。PCR检测可用于新生犊牛神经疾病的鉴别诊断以及无角海福特种畜的选择。

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