Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.
Youssoufian
H
H
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Wong
C
C
Aronis
S
S
Platokoukis
H
H
Kazazian
H H
HH
Antonarakis
S E
SE
D000293:Adolescent; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D005973:Glutamine; D005998:Glycine; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010375:Pedigree
D005973:Glutamine; D005169:Factor VIII; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases; D005998:Glycine