A two-step procedure for extracting genomic DNA from dried blood spots on filter paper for polymerase chain reaction amplification

2006 ◽  
Vol 354 (1) ◽  
pp. 159-161 ◽  
Author(s):  
H. Zhou ◽  
J.G.H. Hickford ◽  
Q. Fang
1992 ◽  
Vol 38 (10) ◽  
pp. 2100-2107 ◽  
Author(s):  
B S Andresen ◽  
I Knudsen ◽  
P K Jensen ◽  
K Rasmussen ◽  
N Gregersen

Abstract Two new nonradioactive polymerase chain reaction (PCR)-based assays for the Z and S mutations in the alpha 1-antitrypsin gene are presented. The assays take advantage of PCR-mediated mutagenesis, creating new diagnostic restriction enzyme sites for unambiguous discrimination between test samples from individuals who are normal, heterozygous, or homozygous for the mutations. We show that the two assays can be performed with purified genomic DNA as well as with boiled blood spots. The new assays were validated by parallel testing with a technique in which PCR is combined with allele-specific oligonucleotide (ASO) probes. In all cases tested the results obtained by the different techniques were in accordance. The new assays can be used for prenatal diagnostics and can be performed directly with boiled tissue samples. Because the new assays are easy to perform and reliable, we conclude that they are well suited for routine diagnosis.


Author(s):  
Abdelrahman A Elhassan ◽  
Fathelrahman Mahdi Hassan ◽  
Hanan B Eltahir

Objectives: In this study we aimed to investigate whether P-selectin gene polymorphism is associated with thrombosis in Sudanese pregnant women in Khartoum state.Methods: After informed consent, 96 Sudanese pregnant women with thrombosis and 53 healthy pregnant women were recruited in the study. Genomic DNA was isolated from whole blood. Genotyping of PSGL-1 gene was performed by polymerase chain reaction amplification for exon 14 and electrophoresis.Results: The frequency of the B allele was found to be significantly higher in pregnant women with thrombosis (26%) compared to the controls (17.4%).Conclusion: The AB genotype was found to be higher in women with thrombosis 40.6% than in healthy controls 20% (p=0.02). Our results suggest that the PSGL-1 AB genotype is associated with an increased risk of thrombosis in Sudanese pregnant women.


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