Abstract |
Mutation screening studies related with thrombosis revealed that prothrombin 20210A allele of the prothrombin gene leads to an increase in plasma prothrombin levels. The G20210A mutation screening has become a routine analysis in patients with thrombosis. For the detection of the mutation, several molecular techniques have been defined. Real-time polymerase chain reaction is an easy and feasible way to monitor this mutation according to the melting point analysis. Here we report a different pattern in the LightCycler melting point analysis of 2 patients with thrombosis. DNA sequencing of the prothrombin gene showed that these patients with an atypical melting point profile carry a 20209 C >T mutation along with a novel homozygous polymorphism at the 3' downstream region, +4 C >T.
|
Authors | Hilal Ozdag, Yonca Egin, Nejat Akar |
Journal | Laboratory hematology : official publication of the International Society for Laboratory Hematology
(Lab Hematol)
Vol. 12
Issue 3
Pg. 131-3
( 2006)
ISSN: 1080-2924 [Print] United States |
PMID | 16950672
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
|
Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- DNA Mutational Analysis
(methods)
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Middle Aged
- Point Mutation
(genetics)
- Polymorphism, Genetic
(genetics, physiology)
- Prothrombin
(chemistry, genetics)
- Sequence Analysis, DNA
- Thrombosis
(blood, genetics)
- Transition Temperature
|