三种ADAMTS13去整合素样结构域突变致蛋白功能缺陷及其与血栓关联的研究

林莉亚, 吴希, 毛胤祺, 陈光明, 武文漫, 戴菁, 王学锋, 丁秋兰

Three disintegrin-like domain mutations of ADAMTS13： functional deficiency and association with thrombosis

LIN Liya, WU Xi, MAO Yinqi, CHEN Guangming, WU Wenman, DAI Jing, WANG Xuefeng, DING Qiulan

图1 4个携带ADAMTS13基因突变的血栓患者家系 A：家系1；B：家系2；C：家系3；D：家系4。圆圈 （○）：女性。方块 （□）：男性。箭头（↗）：先证者。横线：携带ADAMTS13 Pro301Ala杂合错义突变。斜线：携带ADAMTS13 Pro301Arg杂合错义突变。黑色：携带ADAMTS13 Arg349Cys 杂合错义突变。

Figure 1 Pedigrees of four thrombotic patients carrying ADAMTS13 gene variants A: Pedigree 1. B: Pedigree 2. C: Pedigree 3. D: Pedigree 4. Legend: Circle (○): Female. Square (□): Male. Arrow (↗): Proband. Horizontal line: Carriers of the ADAMTS13 Pro301Ala heterozygous missense va-riant. Slash: Carriers of the ADAMTS13 Pro301Arg heterozygous missense variant. Black: Carriers of the ADAMTS13 Arg349Cys heterozygous missense variant.