INSTABILITY OF REPEATS OF THE VON-WILLEBRAND FACTOR GENE VARIABLE NUMBER TANDEM REPEAT SEQUENCE IN INTRON-40

被引：15

作者：

EIKENBOOM, JCJ

REITSMA, PH

VANDERVELDEN, PA

BRIET, E

机构：

[1] Haemostasis and Thrombosis Research Centre, Department of Haematology, University Hospital Leiden

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1993年 / 84卷 / 03期

关键词：

D O I：

10.1111/j.1365-2141.1993.tb03114.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The von Willebrand factor gene contains a highly polymorphic variable number tandem repeat sequence (VNTR) in intron 40. We observed the spontaneous mutation to a new length allele. Sequence analysis revealed that the change in length corresponds to one tetranucleotide repeat unit. This observation emphasizes the risk of errors in family studies and prenatal diagnosis due to VNTR instability.

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页码：533 / 535

页数：3

相关论文

共 13 条

[1] INTRINSIC POLYMORPHISM OF VARIABLE NUMBER TANDEM REPEAT LOCI IN THE HUMAN GENOME [J].

ALI, S ;

WALLACE, RB .

NUCLEIC ACIDS RESEARCH, 1988, 16 (17) :8487-8496

[2]

CALCHERIS PM, 1991, J BIOL CHEM, V266, P13499

[3] AN HPHI-POLYMORPHISM IN EXON-28 OF THE VONWILLEBRAND-FACTOR GENE, AND ITS FREQUENCY AMONG PATIENTS WITH VARIOUS FORMS OF VONWILLEBRANDS DISEASE [J].

DONNER, M ;

HOLMBERG, L ;

KRISTOFFERSSON, AC ;

NILSSON, IM .

BRITISH JOURNAL OF HAEMATOLOGY, 1991, 78 (03) :403-407

[4] VONWILLEBRAND DISEASE FAMILY STUDIES - COMPARISON OF 3 METHODS OF ANALYSIS OF THE VONWILLEBRAND-FACTOR GENE POLYMORPHISM RELATED TO A VARIABLE NUMBER TANDEM REPEAT SEQUENCE IN INTRON-40 [J].

GAUCHER, C ;

MERCIER, B ;

MAZURIER, C .

BRITISH JOURNAL OF HAEMATOLOGY, 1992, 82 (01) :73-80

[5] SPONTANEOUS MUTATION-RATES TO NEW LENGTH ALLELES AT TANDEM-REPETITIVE HYPERVARIABLE LOCI IN HUMAN DNA [J].

JEFFREYS, AJ ;

ROYLE, NJ ;

WILSON, V ;

WONG, Z .

NATURE, 1988, 332 (6161) :278-281

[6] RSAL POLYMORPHISM IN VONWILLEBRAND-FACTOR (VWF) AT CODON-789 [J].

KUNKEL, GR ;

GRAHAM, JB ;

FOWLKES, DM ;

LORD, ST .

NUCLEIC ACIDS RESEARCH, 1990, 18 (16) :4961-4961

[7]

MANCUSO DJ, 1989, J BIOL CHEM, V264, P19514

[8] CHARACTERIZATION OF 98-ALLELES IN 105 UNRELATED INDIVIDUALS IN THE F8VWF-GENE [J].

MERCIER, B ;

GAUCHER, C ;

MAZURIER, C .

NUCLEIC ACIDS RESEARCH, 1991, 19 (17) :4800-4800

[9] ISOLATION AND MAPPING OF A POLYMORPHIC DNA-SEQUENCE PYNH24 ON CHROMOSOME-2 [J].

NAKAMURA, Y ;

GILLILAN, S ;

OCONNELL, P ;

LEPPERT, M ;

LATHROP, GM ;

LALOUEL, JM ;

WHITE, R .

NUCLEIC ACIDS RESEARCH, 1987, 15 (23) :10073-10073

[10]

PEAKE IR, 1990, BLOOD, V76, P555