Detection of a novel point mutation of the prothrombin gene at position 20209.
Detection of the prothrombin G20210A mutation was performed on the LightCycler Instrument (Roche Molecular Biochemicals, Mannheim, Germany) using commercially available primers and hybridization probes. Herein we report four cases from unrelated African American individuals where LightCycler analysis showed atypical melting curves. Sequence analysis of the four samples showed heterozygosity for a C to T mutation 1 bp upstream from the known 20210 mutation at position 20209. The clinical significance of this mutation is not known, but three patients in whom it was detected had a history of venous thrombosis or stroke. The fourth patient had severe liver disease, which may have masked thrombotic predisposition. Since most assays used to detect the G20210A mutation use a PCR/restriction digestion assay, which would not detect the C20209T mutation, this new mutation may be underrecognized when prothrombin gene mutation testing is performed by PCR/restriction digestion assay.
Warshawsky
Ilka
I
Department of Clinical Pathology, Cleveland Clinic Foundation, Ohio 44195, USA. warshai@ccf.org
Hren
Carol
C
Sercia
Linda
L
Shadrach
Bonnie
B
Deitcher
Steven R
SR
Newton
Erin
E
Kottke-Marchant
Kandice
K
D000328:Adult; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009691:Nucleic Acid Denaturation; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011516:Prothrombin / Q000235:genetics*
D015342:DNA Probes; D005819:Genetic Markers; D011516:Prothrombin