A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.
The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.
Soldà
Giulia
G
Asselta
Rosanna
R
Ghiotto
Rossella
R
Tenchini
Maria Luisa
ML
Castaman
Giancarlo
G
Duga
Stefano
S
D000328:Adult; D000368:Aged; D000483:Alleles; D001792:Blood Platelets / Q000378:metabolism; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D012333:RNA, Messenger / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D018389:Codon, Nonsense; D012333:RNA, Messenger; D005172:Factor XI