[A novel gene mutation in a congenital protein S deficiency pedigree].
OBJECTIVE
To study the phenotype and genotype of a protein S (PS) deficiency pedigree.


METHODS
Detection of total and free PS antigen was carried out by ELISA, PS activity by coagulation assay, amplification of exon I-XII fragments of PS gene by polymerase chain reaction (PCR), changes of denaturing cDNA by single-strand conformation polymorphism (SSCP) and gene mutation by DNA sequencing.


RESULTS
In the 9 members of the pedigree, free PS was between 10.3%-45.5% (normal range 55%-128%) and PS activity between 13%-37% (normal range 70%-130%), but total PS was normal. A G to T change in exon X of the protein S gene was identified. This mutation resulted in a substitution of stop codon for Ser.


CONCLUSIONS
It was demonstrated that the proband is heterozygosity and the existance of G163 T change in exon X of the protein S gene led to a substitution of stop codon for Ser. This mutation is a novel undescribed mutation.
Liu
L
L
Tianjin Institute of Thrombosis and Hemostasis, Tianjin First Central Hospital, Tianjin 300192, China.
He
L
L
Yang
S
S
D000328:Adult; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006151:Guanosine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D017293:Protein S / Q000235:genetics* / Q000378:metabolism*; D018455:Protein S Deficiency / Q000097:blood* / Q000235:genetics*; D013936:Thymidine / Q000235:genetics
D018388:Codon, Terminator; D017293:Protein S; D006151:Guanosine; D013936:Thymidine