CHARACTERIZATION OF THE VON-WILLEBRAND-FACTOR GENE (VWF) IN VON-WILLEBRAND DISEASE TYPE-III PATIENTS FROM 24 FAMILIES OF SWEDISH AND FINNISH ORIGIN
CHARACTERIZATION OF THE VON-WILLEBRAND-FACTOR GENE (VWF) IN VON-WILLEBRAND DISEASE TYPE-III PATIENTS FROM 24 FAMILIES OF SWEDISH AND FINNISH ORIGIN
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DOI：
10.1006/geno.1994.1241
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发表时间：
1994-05-01
期刊：
影响因子：
4.4
通讯作者：
ANVRET, M
中科院分区：
文献类型：
--
作者：
ZHANG, ZP;BLOMBACK, M;ANVRET, M
24例m型血管性血友病患者采用PCR技术筛选血管性血友病因子（VWF）基因突变，然后进行直接测序。超过250 kb的基因组DNA进行测序，包括启动子和编码区（52外显子）的VWF基因从24名患者。除了先前报道的外显子18中的单个胞嘧啶缺失突变和外显子28、32和45中的无义突变外，还检测到9个新突变：外显子15和16中的两个无义突变，外显子14中具有胸苷插入的一个等位基因，外显子28中具有胞嘧啶插入的一个等位基因，外显子15中的一个20-bp缺失，外显子43的供体剪接位点中的一个突变，以及外显子28、49和51中的三个错义突变。42个突变的染色体被确定（42/48）; 11个先证者是纯合子的突变，和8个复合杂合子。此外，一个新的亚家族的ALu序列的启动子区域和10个新的多态性被确定。(C)1994年出版社出版。
Twenty-four patients with von Willebrand disease type m were screened for mutations in the von Willebrand factor (VWF) gene using the PCR technique, followed by direct sequencing. More than 250 kb of genomic DNA were sequenced, including the promoter and coding regions (52 exons) of the VWF gene from 24 patients. In addition to the previously reported mutations of a single cytosine deletion in exon 18 and the nonsense mutations in exons 28, 32, and 45, nine new mutations were detected: two nonsense mutations in exons 15 and 16, one allele with a thymidine insertion in exon 14, one allele with a cytosine insertion in exon 28, one 20-bp deletion in exon 15, one mutation in the donor splice site of exon 43, and three missense mutations in exons 28, 49, and 51. Forty-two mutant chromesomes were identified (42/48); 11 probands are homozygous for the mutations, and 8 are compound heterozygous. In addition, a new subfamily of the ALu sequence in the promoter region and 10 new polymorphisms were identified. (C) 1994 Academic Press, Inc.