CHARACTERIZATION OF THE VON-WILLEBRAND-FACTOR GENE (VWF) IN VON-WILLEBRAND DISEASE TYPE-III PATIENTS FROM 24 FAMILIES OF SWEDISH AND FINNISH ORIGIN

被引:88
作者
ZHANG, ZP
BLOMBACK, M
EGBERG, N
FALK, G
ANVRET, M
机构
[1] KAROLINSKA HOSP,DEPT CLIN GENET,S-17176 STOCKHOLM,SWEDEN
[2] KAROLINSKA HOSP,DEPT LAB MED BLOOD COAGULAT,S-17176 STOCKHOLM,SWEDEN
关键词
D O I
10.1006/geno.1994.1241
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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.
引用
收藏
页码:188 / 193
页数:6
相关论文
共 15 条
  • [1] ANVRET M, 1992, HUM GENET, V89, P147
  • [2] ON LABORATORY PROBLEMS IN DIAGNOSING MILD VONWILLEBRANDS DISEASE
    BLOMBACK, M
    ENEROTH, P
    ANDERSSON, O
    ANVRET, M
    [J]. AMERICAN JOURNAL OF HEMATOLOGY, 1992, 40 (02) : 117 - 120
  • [3] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER
    BROOK, JD
    MCCURRACH, ME
    HARLEY, HG
    BUCKLER, AJ
    CHURCH, D
    ABURATANI, H
    HUNTER, K
    STANTON, VP
    THIRION, JP
    HUDSON, T
    SOHN, R
    ZEMELMAN, B
    SNELL, RG
    RUNDLE, SA
    CROW, S
    DAVIES, J
    SHELBOURNE, P
    BUXTON, J
    JONES, C
    JUVONEN, V
    JOHNSON, K
    HARPER, PS
    SHAW, DJ
    HOUSMAN, DE
    [J]. CELL, 1992, 68 (04) : 799 - 808
  • [4] FERREIRA V, 1991, BIOCHEM J, V65, P641
  • [5] GINSBURG D, 1993, THROMB HAEMOSTASIS, V69, P177
  • [6] KRAWCZAK M, 1992, HUM GENET, V90, P41
  • [7] HUMAN VONWILLEBRAND-FACTOR GENE AND PSEUDOGENE - STRUCTURAL-ANALYSIS AND DIFFERENTIATION BY POLYMERASE CHAIN-REACTION
    MANCUSO, DJ
    TULEY, EA
    WESTFIELD, LA
    LESTERMANCUSO, TL
    LEBEAU, MM
    SORACE, JM
    SADLER, JE
    [J]. BIOCHEMISTRY, 1991, 30 (01) : 253 - 269
  • [8] MANCUSO DJ, 1989, J BIOL CHEM, V264, P19514
  • [9] (DC-DA)N.(DG-DT)N SEQUENCES HAVE EVOLUTIONARILY CONSERVED CHROMOSOMAL LOCATIONS IN DROSOPHILA WITH IMPLICATIONS FOR ROLES IN CHROMOSOME STRUCTURE AND FUNCTION
    PARDUE, ML
    LOWENHAUPT, K
    RICH, A
    NORDHEIM, A
    [J]. EMBO JOURNAL, 1987, 6 (06) : 1781 - 1789
  • [10] RUGGERI ZM, 1987, BLOOD, V70, P895