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2 4个家系先证者的Sanger测序结果 A：正常人，ADAMTS13基因第8外显子区序列正常；B：家系1先证者，ADAMTS13基因第8外显子区出现c.901C>G：p.Pro301Ala 突变； C：家系2先证者，ADAMTS13 基因第 8 外显子区出现c.902C>G：p.Pro301Arg突变；D：家系3先证者，ADAMTS13 基因第8外显子区出现c.902C>G：p.Pro301Arg突变；E：正常人，ADAMTS13基因第9外显子区序列正常；F：家系4先证者，ADAMTS13基因第9外显子区出现c.1045C>T：p.Arg349Cys突变。

Figure 2 Sanger sequencing results of probands from four pedigrees A: Normal individual showing wild-type sequence in exon 8 of the ADAMTS13 gene.B: Proband of Family 1 with a heterozygous ADAMTS13 mutation in exon 8: c.901C>G (p.Pro301Ala).C: Proband of Family 2 with a heterozygous ADAMTS13 mutation in exon 8: c.902C>G (p.Pro301Arg).D: Proband of Family 3 with the same heterozygous ADAMTS13 mutation in exon 8: c.902C>G (p.Pro301Arg).E: Normal individual showing wild-type sequence in exon 9 of the ADAMTS13 gene.F: Proband of Family 4 with a heterozygous ADAMTS13 mutation in exon 9: c.1045C>T (p.Arg349Cys).