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A new marker at DXS 115 useful for carrier detection in hemophilia A

✍ Scribed by Manfred Wehnert; Winnie Schröder; Falko H. Herrmann

Book ID
104663288
Publisher
Springer
Year
1990
Tongue
English
Weight
251 KB
Volume
86
Category
Article
ISSN
0340-6717

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✦ Synopsis

In this brief communication we report a new intergenic polymorphism at DXS115 as a marker for detection of heterozygotes in families at risk for hemophilia A. Total genomic DNA was isolated from white blood cells, double digested by KpnI and XbaI and hybridized with EcoRI/SstI fragment of the genomic probe p482.6. The incidence of the polymorphic 5.1-kb fragment was estimated as 0.069 in a German population. A technical advantage of using the XbaI/KpnI RFLP is that both the intragenic XbaI-RFLP in intron 22 of factor VIII gene and the new intergenic RFLP can be evaluated at the same time.

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