TY - T1的遗传易感性的白质梗死缺蛋白S和R355C突变JF -神经学乔-神经病学SP - 2185 LP - 2189 - 10.1212 / WNL。首页0 b013e3182020379六世- 75 - 24 AU - t。w。梁盟S.-F。Yip AU - C.-W。林盟-陈T.L.盟W.W.M. Lam AU - D.Y.W. Siu盟盟、粉丝N.P.H.陈盟L.-C——H.S.Y.刘盟。陈盟——K.-S。黄Y1 - 2010/12/14 UR - http://n.neur首页ology.org/content/75/24/2185.abstract N2 -背景:之间的关系缺蛋白S (PSD)和缺血性中风是有争议的,需要进一步调查。方法:我们进行了基因型和核磁共振相关研究在一个中国家庭遗传PSD cosegregated过早缺血性中风。11的家庭成员继承了PSD类型III以常染色体显性遗传的方式。结果:在所有PSD成员,一个新颖的错义突变1063 c→T外显子10α蛋白S (PROS1)识别,编码一个替换的精氨酸,半胱氨酸在355位置(R355C)在第一层粘连蛋白的球状域蛋白质S野生型PROS1序列保留在non-PSD成员。核磁共振检测深白质梗死主要分布在borderzone地区。梗塞地形均匀在所有成年突变携带者。 By contrast, cerebral infarction was absent in nonmutant carriers. Extensive investigation in the family did not reveal any confounding stroke risk. Haplotype analysis with high-density single nucleotide polymorphism markers revealed a 6.1-Mb minimally rearranged region (rs12494685 to rs1598240) in 3q11.2, lod = 3.0. Among the 7 annotated genes in this region, PROS1 is known to be associated with thrombotic disorders. MRI screening in an additional 10 PSD families without R355C showed no cerebral infarction. Conclusions: PROS1 R355C mutation cosegregated with PSD type III and premature white matter infarctions in the index family. The findings substantiate an association between PSD and stroke. Study of the mechanism underlying this association may improve our understanding of premature cryptogenic white matter infarction. ER -