TY - JOUR
T1 - Evaluation of laboratory methods for cystic fibrosis carrier screening
T2 - Reliability, sensitivity, specificity, and costs
AU - Miedzybrodzka, Zosia H.
AU - Yin, Zhikang
AU - Kelly, Kevin F.
AU - Haites, Neva E.
PY - 1994/7/1
Y1 - 1994/7/1
N2 - We report a comparative evaluation of three different laboratory methods for screening large numbers of mouthwash DNA samples for common cystic fibrosis mutations. Sensitivity, specificity, and costs of ARMS (allele refractory mutation detection system), dot blotting, and a deletion/digest/PAGE method (multiplex PCR of exons 10 and 11, digest with HincII followed by polyacrylamide gel electrophoresis (PAGE)) were assessed. ARMS was the most reliable and sensitive method and so was considered more suitable than the cheaper deletion/digest/PAGE. As well as being less reliable than ARMS, the dot blotting method assessed was considerably more costly. ARMS was the best laboratory method for CF screening tested.
AB - We report a comparative evaluation of three different laboratory methods for screening large numbers of mouthwash DNA samples for common cystic fibrosis mutations. Sensitivity, specificity, and costs of ARMS (allele refractory mutation detection system), dot blotting, and a deletion/digest/PAGE method (multiplex PCR of exons 10 and 11, digest with HincII followed by polyacrylamide gel electrophoresis (PAGE)) were assessed. ARMS was the most reliable and sensitive method and so was considered more suitable than the cheaper deletion/digest/PAGE. As well as being less reliable than ARMS, the dot blotting method assessed was considerably more costly. ARMS was the best laboratory method for CF screening tested.
UR - http://www.scopus.com/inward/record.url?scp=0028263680&partnerID=8YFLogxK
M3 - Article
C2 - 7525964
AN - SCOPUS:0028263680
SN - 0022-2593
VL - 31
SP - 545
EP - 550
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 7
ER -