Candidate gene analyses by scanning or brute force fluorescent sequencing: a comparison of DOVAM-S with gel-based and capillary-based sequencing.
For epidemiological and diagnostic applications, detection of virtually all mutations is desired. Herein, blinded analyses of DOVAM-S (Detection Of Virtually All Mutations-SSCP), a robotically enhanced multiplex SSCP method, demonstrate that all of 525 mutations (391 unique) are detected by the method. In addition, the costs of DOVAM-S, gel-based fluorescent sequencing and capillary-based fluorescent sequencing are compared. The relative cost effectiveness of gel-based and capillary-based sequence analysis depends on throughput and whether depreciation and service are considered. DOVAM-S reduces the cost of candidate gene analyses relative to brute force sequencing by about threefold.
Feng
Jinong
J
Departments of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, Duarte, California.
Yan
Jin
J
Li
Wenyan
W
Chen
Jiesheng
J
Sommer
Steve S
SS
D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis / Q000191:economics / Q000379:methods*; D005453:Fluorescence; D005820:Genetic Testing; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D009154:Mutation; D011446:Prospective Studies; D012680:Sensitivity and Specificity
D004247:DNA