OBJECTIVE: Wolff-Parkinson-White syndrome (WPW) is considered to be an autosomal dominant hereditary disease, but the gene is not identified. The objective of this study was to localize the genetic loci of Wolff-Parki...OBJECTIVE: Wolff-Parkinson-White syndrome (WPW) is considered to be an autosomal dominant hereditary disease, but the gene is not identified. The objective of this study was to localize the genetic loci of Wolff-Parkinson-White syndrome. METHODS: Linkage analysis between the disease of Wolff-Parkinson-White syndrome and 3 STR (short tandem repeats) markers on 7q3 (D7S505, D7S688, and D7S483) was tested in 3 kindreds of the Wolff-Parkinson-White syndrome (101 numbers in total) by genotyping. RESULTS: Wolff-Parkinson-White syndrome was linked to the loci above. The maximum two-point Lod score detected at D7S505 was 6.4 at a recombination fraction (theta) of 0.1; the Lod score of D7S688, D7S483 was 5.3 vs 2.5. CONCLUSION: The gene of Wolff-Parkinson-White syndrome is located at 7q3.展开更多
This work is aimed at describing the proceedings and parameters used to validate PowerPlex■ Fusion 6C System,the polymerase chain reaction (PCR) amplification kit by Promega,for posterior implementation in the labora...This work is aimed at describing the proceedings and parameters used to validate PowerPlex■ Fusion 6C System,the polymerase chain reaction (PCR) amplification kit by Promega,for posterior implementation in the laboratorial routine of the Forensic Genetic Service.The PowerPlex■ Fusion 6C System allows multiplex PCR,through simultaneous amplification and posterior detection by fluorescence of 27 loci.Characterization of the kit was made according to the laboratory's internal validation procedure based on validation guidelines from Scientific Working Group on DNA Analysis Methods.Some parameters were evaluated,such as specificity,analytical thresholds,sensitivity,precision,mixture studies,DNA control samples,a proficiency test and changes in the PCR-based procedures: final reaction volume and cycle number,changes in the reaction mixture for direct amplification.This kit proved to be very robust and the results are in concordance with previous developmental validation by the manufacturer.In some parameters,the results were better than expected.展开更多
文摘OBJECTIVE: Wolff-Parkinson-White syndrome (WPW) is considered to be an autosomal dominant hereditary disease, but the gene is not identified. The objective of this study was to localize the genetic loci of Wolff-Parkinson-White syndrome. METHODS: Linkage analysis between the disease of Wolff-Parkinson-White syndrome and 3 STR (short tandem repeats) markers on 7q3 (D7S505, D7S688, and D7S483) was tested in 3 kindreds of the Wolff-Parkinson-White syndrome (101 numbers in total) by genotyping. RESULTS: Wolff-Parkinson-White syndrome was linked to the loci above. The maximum two-point Lod score detected at D7S505 was 6.4 at a recombination fraction (theta) of 0.1; the Lod score of D7S688, D7S483 was 5.3 vs 2.5. CONCLUSION: The gene of Wolff-Parkinson-White syndrome is located at 7q3.
文摘This work is aimed at describing the proceedings and parameters used to validate PowerPlex■ Fusion 6C System,the polymerase chain reaction (PCR) amplification kit by Promega,for posterior implementation in the laboratorial routine of the Forensic Genetic Service.The PowerPlex■ Fusion 6C System allows multiplex PCR,through simultaneous amplification and posterior detection by fluorescence of 27 loci.Characterization of the kit was made according to the laboratory's internal validation procedure based on validation guidelines from Scientific Working Group on DNA Analysis Methods.Some parameters were evaluated,such as specificity,analytical thresholds,sensitivity,precision,mixture studies,DNA control samples,a proficiency test and changes in the PCR-based procedures: final reaction volume and cycle number,changes in the reaction mixture for direct amplification.This kit proved to be very robust and the results are in concordance with previous developmental validation by the manufacturer.In some parameters,the results were better than expected.
