Rapid detection of the Φ508 deletion in cystic fibrosis by Allele specific PCR and electrochemiluminescent detection

1995 ◽  
Vol 28 (4) ◽  
pp. 470-473 ◽  
Author(s):  
Harvey J. Stern ◽  
Rufina D. Carlos ◽  
Ted E. Schutzbank
1999 ◽  
Vol 81 (03) ◽  
pp. 463-463 ◽  
Author(s):  
M. Henry ◽  
P. E. Morange ◽  
I. Canavy ◽  
M. C. Alessi ◽  
I. Juhan-Vague

2010 ◽  
Vol 26 (1) ◽  
pp. 18-21 ◽  
Author(s):  
Tester F. Ashavaid ◽  
Himanshu S. Raje ◽  
Bharat V. Shah ◽  
Swarup A. Shah

2013 ◽  
Vol 15 (6) ◽  
pp. 783-789 ◽  
Author(s):  
Stuart A. Scott ◽  
Qian Tan ◽  
Usman Baber ◽  
Yao Yang ◽  
Suparna Martis ◽  
...  

2004 ◽  
Vol 50 (4) ◽  
pp. 694-701 ◽  
Author(s):  
Ourania Nasis ◽  
Shanel Thompson ◽  
Tom Hong ◽  
Margaret Sherwood ◽  
Shawn Radcliffe ◽  
...  

Abstract Background: Cell-free fetal DNA circulating in maternal blood has potential as a safer alternative to invasive methods of prenatal testing for paternally inherited genetic alterations, such as cystic fibrosis (CF) mutations. Methods: We used allele-specific PCR to detect mutated CF D1152H DNA in the presence of an excess of the corresponding wild-type sequence. Pfx buffer (Invitrogen) containing replication accessory proteins and Taq polymerase with no proofreading activity was combined with TaqMaster PCR Enhancer (Eppendorf) to suppress nonspecific amplification of the wild-type allele. The procedure was tested on DNA isolated from plasma drawn from 11 pregnant women (gestational age, 11–19.2 weeks), with mutation confirmation by chorionic villus sampling. Results: The method detected 5 copies of the CF D1152H mutant allele in the presence of up to ∼100 000 copies of wild-type allele without interference from the wild-type sequence. The D1152H mutation was correctly identified in one positive sample; the only false-positive result was seen in a mishandled sample. Conclusions: This procedure allows for reliable detection of the paternally inherited D1152H mutation and has potential application for detection of other mutations, which may help reduce the need for invasive testing.


2006 ◽  
Vol 45 (2) ◽  
pp. 303-305 ◽  
Author(s):  
T. Nishizawa ◽  
H. Suzuki ◽  
A. Umezawa ◽  
H. Muraoka ◽  
E. Iwasaki ◽  
...  

2002 ◽  
Vol 316 (1-2) ◽  
pp. 147-154 ◽  
Author(s):  
Akihiro Yamaguchi ◽  
Juan Alberto Nepote ◽  
Maliheh Kadivar ◽  
Yasuko Tagami ◽  
Masaru Fukushi ◽  
...  

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