Protein S mRNA in patients with protein S deficiency.
A protein S gene polymorphism, detectable by restriction analysis (BstXI) of amplified exonic sequences (exon 15), was studied in seven Italian families with protein S deficiency. In the 17 individuals heterozygous for the polymorphism the study was extended to platelet mRNA through reverse transcription, amplification and densitometric analysis. mRNA produced by the putative defective protein S genes was absent in three families and reduced to a different extent (as expressed by altered allelic ratios) in four families. The allelic ratios helped to distinguish total protein S deficiency (type I) for free protein S deficiency (type IIa) in families with equivocal phenotypes. This study indicates that the study of platelet mRNA, in association with phenotypic analysis based upon protein S assays in plasma, helps to classify patients with protein S deficiency.
D000483:Alleles; D001483:Base Sequence; D001792:Blood Platelets / Q000737:chemistry; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics* / Q000302:isolation & purification
D017293:Protein S; D012333:RNA, Messenger; C047564:CCANNNNNNTGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific