Abstract:
:The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair high performance liquid chromatography. A significant reduction in the height of a peak in the probandOs sample compared to in the control indicates the presence of a large deletion of the corresponding allele. Using this approach we identified heterozygous deletions in four patients: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene.
journal_name
Haematologicajournal_title
Haematologicaauthors
Pavlova A,El-Maarri O,Luxembourg B,Lindhoff-Last E,Kochhan L,Bruhn HD,Delev D,Watzka M,Seifried E,Oldenburg Jsubject
Has Abstractpub_date
2006-09-01 00:00:00pages
1264-7issue
9eissn
0390-6078issn
1592-8721journal_volume
91pub_type
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