First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
The authors used a strategy combining the amplification-refractory mutations system (ARMS) and denaturing gradient gel electrophoresis (DGGE) to screen the active protein S (PS) gene in a family with PS deficiency, and found a frameshift mutation in exon V. The protein, if expressed, would have an aberrant amino acid sequence from positions 82 to 90 and a premature stop codon in position 91. The mutation co-segregated with the deficient phenotype and was not found in 120 normal chromosomes. It is proposed that the deletion of a T in the codon corresponding to Pro 82 described here is responsible for the deficient phenotype.
Borgel
D
D
INSERM CJF 91-01, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris, France.
Gandrille
S
S
Gouault-Heilmann
M
M
Aiach
M
M
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011489:Protein Denaturation; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000235:genetics*; D011655:Pulmonary Embolism; D017384:Sequence Deletion
D017293:Protein S