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

被引:12
作者
GAUCHER, C [1 ]
MERCIER, B [1 ]
MAZURIER, C [1 ]
机构
[1] CTR REG TRANSFUS SANGUINE,RECH HEMOSTASE LAB,21 RUE C GUERIN,F-59012 LILLE,FRANCE
关键词
D O I
10.1111/j.1365-2141.1992.tb04596.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A region with a variable number of tandem ATCT repeats (VNTR) has previously been localized within intron 40 of the von Willebrand factor (vWF) gene. In the present report we describe the use of this polymorphism as a genetic marker to study the inheritance pattern in five families affected with various types of von Willebrand disease (vWD): types I, IIA, IIB, IIC and the newly characterized variant with totally defective FVIII binding. Three means of investigation previously reported, all using polymerase chain reaction (PCR) amplification of this vWF gene region, were compared in terms of informativeness. The two direct single-step procedures analysing only partial sequences of the VNTR region turned out to be less informative (three studies informative out of five) than the third method characterizing the variability of the whole VNTR sequence. This latter approach, based on the analysis of the Alu I restriction pattern of the VNTR region, was informative in all the families investigated, therefore avoiding the need to combine it with other genetic marker studies for efficient gene tracking. In conclusion, this two-step (PCR and digestion) method is the most informative for the characterization of the inheritance of the different subtypes of vWD and for the prenatal diagnosis of its severe forms.
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页码:73 / 80
页数:8
相关论文
共 40 条
[1]   VONWILLEBRAND DISEASE TYPE IIC WITH DIFFERENT ABNORMALITIES OF VONWILLEBRAND-FACTOR IN THE SAME SIBSHIP [J].
BATLLE, J ;
FERNANDEZ, MFL ;
LASIERRA, J ;
VILLAMOR, AF ;
BERGES, CL ;
BORRASCA, AL ;
RUGGERI, ZM ;
ZIMMERMAN, TS .
AMERICAN JOURNAL OF HEMATOLOGY, 1986, 21 (02) :177-188
[2]  
BERKOWITZ SD, 1989, COAGULATION BLEEDING, V9, P215
[3]  
BERNARDI F, 1990, BLOOD, V75, P677
[4]   THE HUMAN VONWILLEBRAND-FACTOR GENE - STRUCTURE OF THE 5' REGION [J].
BONTHRON, D ;
ORKIN, SH .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1988, 171 (1-2) :51-57
[5]   AATII POLYMORPHISM IN VON WILLEBRAND FACTOR GENE AT CODON 471 [J].
BOWEN, DJ ;
WEBB, CE ;
PEAKE, IR ;
BLOOM, AL .
NUCLEIC ACIDS RESEARCH, 1991, 19 (11) :3159-3159
[6]  
CACHERIS PM, 1991, J BIOL CHEM, V266, P13499
[7]   THE MOLECULAR DEFECT IN TYPE-IIB VONWILLEBRAND DISEASE - IDENTIFICATION OF 4 POTENTIAL MISSENSE MUTATIONS WITHIN THE PUTATIVE GPLB BINDING DOMAIN [J].
COONEY, KA ;
NICHOLS, WC ;
BRUCK, ME ;
BAHOU, WF ;
SHAPIRO, AD ;
BOWIE, EJW ;
GRALNICK, HR ;
GINSBURG, D .
JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (04) :1227-1233
[8]   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
[9]   A KPNL DNA POLYMORPHISM IN THE HUMAN VONWILLEBRAND-FACTOR (VWF) GENE [J].
DRISCOLL, CM ;
CHIU, C ;
HILGARTNER, MW .
NUCLEIC ACIDS RESEARCH, 1990, 18 (16) :4968-4968
[10]   AN ECORI POLYMORPHISM IN THE HUMAN VONWILLEBRAND-FACTOR (VWF) GENE [J].
EWERHARDT, B ;
LUDWIG, M ;
SCHWAAB, R ;
SCHNEPPENHEIM, R ;
OLEK, K .
NUCLEIC ACIDS RESEARCH, 1989, 17 (13) :5416-5416