Determination of haemophilia A carrier status from hair samples using polymerase chain reaction technique

2008 ◽  
Vol 46 (3) ◽  
pp. 263-267 ◽  
Author(s):  
S. Hussain ◽  
A. Shamim ◽  
L. Vencer ◽  
A. I. Butt ◽  
R. Al-Harithy ◽  
...  
1990 ◽  
Vol 36 (12) ◽  
pp. 2113-2117 ◽  
Author(s):  
T W Prior ◽  
A C Papp ◽  
P J Snyder ◽  
W E Highsmith ◽  
K J Friedman ◽  
...  

Abstract Detection of carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), in the deletion cases, involves calculating gene dosage from Southern blots. We show that the analysis of dosage can also be made from the polymerase chain reaction (PCR) with use of allele-specific oligonucleotides (ASOs). The deletion-prone exons are amplified, transferred to a membrane, and hybridized with ASOs complementary to the exons; the autoradiographic bands are then quantified with a densitometer. After determining the quantitative conditions of the amplification reaction, we were able to identify deletions in a DMD/BMD carrier female. The determination of carrier status via PCR removes several of the technical limitations of Southern analysis and is also cost- and labor-effective.


1991 ◽  
Vol 22 (7) ◽  
pp. 685-689 ◽  
Author(s):  
Pilar Lardelli ◽  
Ramoma F. Swaby ◽  
L. Jeffrey Medeiros ◽  
Elaine S. Jaffe ◽  
Rita Rizzi ◽  
...  

RSC Advances ◽  
2016 ◽  
Vol 6 (60) ◽  
pp. 54898-54903 ◽  
Author(s):  
Dalia M. El-Husseini ◽  
Nashwa M. Helmy ◽  
Reham H. Tammam

We experimented the effect of 15 nm unmodified citrate coated GNPs on the key PCR reactants to see if these would enhance the overall outcomes of the reaction. Thus, the optimized GNPs-assisted PCR could be used for more efficient diagnosis of EHV-1.


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