Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.
The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encompassing the factor IX and mcf.2 genes and a CG-rich island. We believe these patients show the first nullisomic deletion of a transforming gene to be reported. No clinical condition can be attributed to the loss of the mcf.2 gene.
Anson
D S
DS
Sir William Dunn School of Pathology, University of Oxford, UK.
Blake
D J
DJ
Winship
P R
PR
Birnbaum
D
D
Brownlee
G G
GG
D015139:Blotting, Southern; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis / Q000235:genetics; D015342:DNA Probes; D004262:DNA Restriction Enzymes; D005164:Factor IX / Q000235:genetics; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D009693:Nucleic Acid Hybridization; D009857:Oncogenes; D015183:Restriction Mapping
D015342:DNA Probes; D005164:Factor IX; D004247:DNA; D004262:DNA Restriction Enzymes