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利用PCR-RFLP检测中国荷斯坦牛遗传缺陷——瓜氨酸血症
引用本文:李建斌,王洪梅,高运东,张秀红,李彦芹,仲跻峰. 利用PCR-RFLP检测中国荷斯坦牛遗传缺陷——瓜氨酸血症[J]. 生物技术通报, 2006, 0(6): 97-99
作者姓名:李建斌  王洪梅  高运东  张秀红  李彦芹  仲跻峰
作者单位:1. 山东省农业科学院奶牛研究中心,济南,250100
2. 山东奥克斯生物技术有限公司,济南,250100
基金项目:山东省农业科学院科研项目;山东省农业良种产业化工程项目
摘    要:瓜氨酸血症(Citrullinemia)是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。精氨酸琥珀酸合成酶基因外显子5发生突变(C-T)对这一紊乱负责。本研究应用PCR-RFLP方法和DNA测序技术检测济南市周边120头荷斯坦母牛和山东奥克斯生物技术有限公司种公牛站50头荷斯坦公牛的精氨酸琥珀酸合成酶基因外显子5。结果发现,所检测的公牛未发现瓜氨酸血症突变基因携带者,母牛中有2头为携带者,携带频率为1.18%。

关 键 词:荷斯坦牛  瓜氨酸血症  PCR-RFLP  检测
收稿时间:2006-09-06
修稿时间:2006-09-06

Detection of an Inherited Defect: Citrullinemia by PCR-RFLP in Chinese Holstein Dairy Cattle
Li Jianbin,Wang Hongmei,Gao Yundong,Zhang Xiuhong,Li Yanqin,Zhong Jifeng. Detection of an Inherited Defect: Citrullinemia by PCR-RFLP in Chinese Holstein Dairy Cattle[J]. Biotechnology Bulletin, 2006, 0(6): 97-99
Authors:Li Jianbin  Wang Hongmei  Gao Yundong  Zhang Xiuhong  Li Yanqin  Zhong Jifeng
Affiliation:1.Dairy Cattle Research Center,Shandong Academy of Agricultural Sciences,Jinan 250100; 2.Shandong Ox Biotechnology CO ,.LTD ,Jinan 250100
Abstract:Citrullinemia is an autosomal recessive inherited defect resulted in the urea cycle disorder in Holstein Dairy cattle.The mutation(C-T)occurred in exon 5 for argininosuccinate synthesize was responsible for this disorder.Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were used to analyze exon 5 for argininosuccinate synthesize of 120 Holstein dairy cows in Jinan and 50 Holstein bulls from AI Center belong to Shandong Ox Biotechnology CO,LTD.Result shown that two cows was CN-carriers,and bulls only found wild genotype,without the recessive gene,corresponding to an incidence of 1.18%.
Keywords:Holstein cattle Citrullinemia PCR-RFLP Detection
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