Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency
| Autor: | Francesco Bernardi, Sergio Coccheri, G. Palareti, Donato Gemmati, M. Ferrati, P. Patracchini, Cristina Legnani, Giovanna Marchetti |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Protein S Deficiency Molecular Sequence Data Jaundice Biology Polymerase Chain Reaction Protein S Polymorphism (computer science) medicine Humans RNA Messenger Protein S deficiency Allele Gene Genetics Messenger RNA Polymorphism Genetic Base Sequence DNA Hematology Thrombophlebitis medicine.disease Molecular biology Reverse transcriptase Pedigree Female Gene polymorphism Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | British Journal of Haematology. 85:173-175 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.1993.tb08662.x |
| Popis: | Summary. A protein S gene polymorphism, detectable by restriction analysis of amplified exonic sequences, was investigated in a family with members affected by protein S deficiency, deep vein thrombosis and ictus. The clinical laboratory findings as well as RFLP analysis were consistent with the presence of a type WP III protein S deficiency clearly marked by a polymorphic allele, thus enabling us to determine the carrier status in several subjects. The RFLP analysis, extended to platelet mRNA after reverse transcription and amplification, demonstrated that the mRNA produced by the putative defective gene was present in a subject affected by thrombosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text