Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
复制标题
德系犹太人的 XI 因子（血浆凝血活酶前体）缺乏症是一种出血性疾病，可能由三种类型的点突变引起。
DOI：
10.1073/pnas.86.20.7667
复制
发表时间：
1989
影响因子：
11.1
通讯作者：
Davie,EW
中科院分区：
文献类型：
--
作者：
Asakai,R;Chung,DW;Ratnoff,OD;Davie,EW
因子XI（血浆促凝血酶原激酶前体）缺乏症是一种在德系犹太人中发生频率很高的凝血异常。在六名不相关的德系犹太人患者的因子XI基因中发现了三个导致凝血异常的独立点突变。这些突变要么破坏正常的mRNA剪接（I型），导致过早的多肽终止（II型），或导致特定的氨基酸取代（III型）。6例患者中存在三种不同的基因型，即I/II型、II/III型和III/III型。到目前为止，尚未发现这三种基因型与这些患者的出血倾向之间存在相关性。
Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. These mutations either disrupt normal mRNA splicing (type I), cause premature polypeptide termination (type II), or result in a specific amino acid substitution (type III). The three different genotypes were present in the six patients as type I/II, type II/III, and type III/III. Thus far no correlation was found between the three genotypes and the bleeding tendency in these patients.