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[Frequency of protein C polymorphisms in Chinese population and thrombotic patients]
Insights
Allelic frequencies of two protein C (PC) gene polymorphisms, PC-1476A/T and PC3342T/G, were analyzed in Chinese Han individuals. Higher frequencies of rare alleles PC-1476T and PC-3342G were observed in thrombotic patients, suggesting a genetic link to thrombosis.
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Research
Background:
- Protein C (PC) plays a crucial role in regulating blood coagulation.
- Genetic variations in the PC gene can influence its function and predispose individuals to thrombotic disorders.
Purpose of the Study:
- To determine the allelic frequencies of two specific PC gene polymorphisms (PC-1476A/T and PC3342T/G) in the Chinese Han population.
- To investigate the association of these polymorphisms with thrombotic conditions.
Main Methods:
- Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) with silver staining was used to detect PC-1476A/T and PC3342T/G.
- Genotyping was performed on 90 healthy individuals and 105 patients with thrombosis.
Main Results:
- Allelic frequencies for PC-1476A/T differed significantly between Chinese Han and Caucasian populations.
- Frequencies of PC-3342T/G were similar between Chinese Han and Caucasian populations.
- Rare alleles PC-1476T and PC-3342G showed higher frequencies in thrombotic patients compared to controls, with PC-1476T being notably elevated in coronary heart disease (CHD) patients.
Conclusions:
- The studied PC gene polymorphisms (PC-1476A/T and PC3342T/G) may represent genetic risk factors for both venous and arterial thrombosis.
- These findings contribute to understanding the genetic basis of thrombosis in the Chinese Han population.
Objective:
To study the allelic frequencies of protein C(PC) polymorphisms in Chinese Han population and thrombotic patients.
Methods:
Two PC polymorphisms PC-1476A/T and PC3342T/G situated in exon 1 and exon 6 of PC were detected by PCR-SSCP silver stain. Ninty normal individuals and 105 patients with thrombosis were studied.
Results:
The frequencies of PC-1476A/T in normal individuals were obviously different from in Caucasians (0.867/0.133, 0.4/0.6), whereas the frequencies of PC-3342T/G were similar in Chinese and Caucasians (0.60/0.40, 0.59/0.41). The frequency distributions of the two polymorphisms were consistent with the law of Hardy-Weinberg and were in the mode of linkage disequilibrium. The frequences of rare alleles PC-1476T and PC-3342G were higher in thrombotic patients (0.21 and 0.46) than in normal controls (0.13 and 0.40). PC-1476T was especially high in CHD patients (0.243) (P < or = 0.05).
Conclusion:
These results suggest that the two polymorphisms may be one of the genetic related factors in venous and arterial thrombosis.