Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection

P Yenchitsomanus; P Thanootarakul; V Akkarapatumwong; S Oranwiroon; P Pung-Amritt; G Veerakul; C Mahasandana

doi:10.1046/j.1365-2516.2001.00507.x

Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection

Haemophilia. 2001 May;7(3):335-8. doi: 10.1046/j.1365-2516.2001.00507.x.

Authors

P Yenchitsomanus, P Thanootarakul, V Akkarapatumwong, S Oranwiroon, P Pung-Amritt, G Veerakul, C Mahasandana

PMID: 11380640
DOI: 10.1046/j.1365-2516.2001.00507.x

Abstract

A splicing defect with 201 nucleotide deletion in the factor VIII transcript due to IVS15 + 1G > T mutation inactivating this donor splice site and activating a cryptic acceptor splice site in exon 16 was identified in a severe haemophilia A patient. Allele specific amplification (ASA) method was successfully developed for direct detection of this mutation.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Exons
Factor VIII / genetics*
Family Health
Female
Hemophilia A / diagnosis
Hemophilia A / genetics*
Humans
Male
Mutation*
Polymerase Chain Reaction / methods
RNA Splicing / genetics*
RNA, Messenger / genetics
Sequence Deletion

Substances

RNA, Messenger
Factor VIII