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Method for diagnosis and prediction of cerebellar ataxia

机译:小脑性共济失调的诊断和预测方法

摘要

in vitro method for diagnosing and / or predicting hereditary cerebellar ataxia in a dog, comprising determining the presence or absence of a genetic variation homozygous in gene sequence arylsulfatase G in a biological sample from said dog, compared with the gene sequence arylsulfatase G of a healthy dog ​​no carrier, wherein the presence of such genetic variation homozygous indicates said dog is or will be affected by hereditary cerebellar ataxia, said dog a selected race in the group consisting of American Staffordshire terrier, American Pit Bull Terrier and Pit Bull type; wherein the cDNA sequence of the gene Arylsulfatase G of a healthy dog ​​no carrier is as shown in SEQ ID NO: 1 or the genomic gene sequence arylsulfatase G of a healthy dog ​​no carrier is as shown in SEQ ID NO: 2; and wherein said genetic variation is a polymorphism of a single nucleotide (SNP) that is an allele of adenosine at nucleotide position 296 of the cDNA sequence of the gene Arylsulfatase G of SEQ ID NO: 1 or an allele adenosine at nucleotide position 22139 of the genomic sequence of gene arylsulfatase G of SEQ ID NO: 2.
机译:诊断和/或预测狗的遗传性小脑共济失调的体外方法,包括与健康犬的芳基硫酸酯酶G的基因序列相比,确定该犬的生物学样品中基因序列芳基硫酸酯酶G的纯合子是否存在遗传变异狗没有携带者,其中这种基因变异纯合性的存在表明所述狗正在或将受到遗传性小脑共济失调的影响,所述狗是美国斯塔福德郡梗,美国斗牛梗和斗牛型中的一个选定种族;其中健康犬无载体的芳基硫酸酯酶G基因的cDNA序列如SEQ ID NO:1所示或健康犬无载体的芳基硫酸酯酶G的基因组基因序列如SEQ ID NO:2所示;其中所述遗传变异是单核苷酸(SNP)的多态性,所述单核苷酸(SNP)是SEQ ID NO:1的基因芳基硫酸酯酶G的cDNA序列的核苷酸位置296处的腺苷等位基因或核苷酸的22139位点的等位基因腺苷。芳基硫酸酯酶G基因的基因组序列,SEQ ID NO:2。

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