公开(公告)号：US20110151440A1

公开(公告)日：2011-06-23

申请号：US12642028

申请日：2009-12-18

申请人： Jonathan Edward BEEVER ,  Brandy Michele MARRON

发明人： Jonathan Edward BEEVER ,  Brandy Michele MARRON

IPC分类号： C12Q1/68 ,  C07H21/04

CPC分类号： C12Q1/6883 ,  C12Q2600/124

摘要： Provided are methods, materials and kits for analyzing DNA samples from bovine to determine whether the animal is a recessive carrier of a genetic mutation that is associated with arthrogryposis multiplex (AM). DNA-containing samples are analyzed by genetic testing to determine whether or not a deletion mutation is present in one of the alleles that are responsible for the AM genetic mutation. In an aspect the deletion encompasses the entirety of the ISG15 ubiquitin-like modifier (ISG15) gene. In an aspect the deletion further encompasses one or both of the 5′ regulatory region of the hairy and enhancer split 4 (HES4) and of the agrin (AGRN) gene and of the first two exons of the AGRN gene.

摘要翻译： 提供了用于分析来自牛的DNA样品的方法，材料和试剂盒，以确定动物是否是与关节病综合征（AM）相关的遗传突变的隐性载体。 通过遗传测试分析含DNA样品，以确定在负责AM基因突变的一个等位基因中是否存在缺失突变。 在一方面，缺失包括整个ISG15泛素样修饰（ISG15）基因。 在一方面，缺失进一步包括毛发和增强子分裂4（HES4）和集聚蛋白（AGRN）基因的5'调节区和AGRN基因的前两个外显子中的一个或两个。