Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene

被引：16

作者：

El-Maarri, O

Oldenburg, J

Çaglayan, SH ^{[1
]}

机构：

[1] Bogazici Univ, Dept Mol Biol & Genet, TR-80815 Bebek, Istanbul, Turkey

[2] Wuerzburg Univ, Biozentrum, Wuerzburg, Germany

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1999年 / 105卷 / 04期

关键词：

factor VIII; Xba I polymorphism; long PCR; haplotype analysis; molecular diagnosis;

D O I：

10.1046/j.1365-2141.1999.01430.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The Xba I polymorphic site in the factor VIII gene is present in the int22h-1 region which is found in two other copies (int22h-2 and int22h-3) distal to the gene. Previously the polymorphic status of the Xba I locus was studied by either Southern blot or PCR that amplified all three copies, Here we report the use of a long PCR that specifically amplifies the intragenic site in intron 22, malting use of this marker an easy and reliable assay, Moreover about 25% of previously uninformative Turkish haemophilia A families examined with three markers proved to be informative for linkage analysis, using the Xba I polymorphism.

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页码：1120 / 1122

页数：3

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