Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women
Autor: | Tomohide Tsuda, Eri Nakazono, Hiroko Tsuda, Kenta Noguchi, Mana Miya, Shihoko Sata, Xiuri Jin, Shuji Nakano |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Adult
Heterozygote young Japanese women 030204 cardiovascular system & hematology Biology medicine.disease_cause Protein S protein S Tokushima (protein S p.Lys196Glu) total protein S assay system 03 medical and health sciences Plasma Young Adult 0302 clinical medicine Antigen Asian People Gene Frequency Japan Genotype medicine Humans Thrombophilia protein C p.Lys193del Antigens Gene Mutation Heterozygote advantage Hematology General Medicine Original Articles Molecular biology Latex fixation test Phenotype biology.protein protein C p.Arg189Trp Female Protein C type II deficiency 030215 immunology medicine.drug |
Zdroj: | Blood Coagulation & Fibrinolysis |
ISSN: | 1473-5733 0957-5235 |
Popis: | Protein S Tokushima (p.Lys196Glu) and two protein C gene variants (p.Arg189Trp, p.Lys193del) are hereditary thrombophilia in Japanese and Chinese populations, respectively; however, their diagnosis by plasma analyses is difficult because of the type II deficiency phenotype. Three gene variant genotypes were examined in young Japanese women (n = 231). Plasma total protein S activity and total protein S antigen levels were measured using a total protein S assay system, protein C and protein S activities by clot-based methods, and protein C and free protein S antigen levels by latex agglutination methods. protein S Tokushima (p.Lys196Glu) and protein C p.Lys193del variants were prevalent among participants with allele frequencies of 1.08 and 0.86%, respectively, whereas any carrier of protein C p.Arg189Trp variant was not identified. The plasma phenotype of the type II deficiency of protein S Tokushima heterozygotes was demonstrated by decreased total protein S activity with a normal total protein S antigen level; however, the protein C activities of protein C p.Lys193del heterozygotes were within reference intervals, whereas their protein C antigen levels were elevated. We compared the diagnostic accuracy of the total protein S activity/total protein S antigen ratio for identifying protein S Tokushima heterozygotes with that of the clot-based protein S activity/free protein S antigen ratio and found that sensitivity and specificity of 100% each was only achieved by the former. Protein S Tokushima and protein C p.Lys193del are prevalent among young Japanese women, and a plasma analysis using the total protein S assay system is more accurate than the clot-based protein S activity/free protein S antigen ratio for diagnosing protein S Tokushima carriers. |
Databáze: | OpenAIRE |
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