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Title: Utilization of TIFF files in the analysis and interpretation of DNA tests

Journal Article · · American Journal of Human Genetics
OSTI ID:134368
; ;  [1]
  1. LSU Medical School, Shreveport, LA (United States)

With the advent of DNA diagnostic testing in clinical practice, molecular geneticists in the genetic testing laboratories are routinely facing the task of interpreting electrophoretic banding patterns of DNA or RNA to diagnose genetic conditions. However, the DNA diagnosticians quite often experience difficulties in diagnoses while interpreting faint bands and smears from the blots, especially when smears are indicative of diagnosis in some conditions such as in fragile X syndrome. With the recent advances in computer imaging, we have been able to simplify this task of interpretation by converting these autoradiograms and Polaroid photographs from PCR gels into TIFF (Tagged Image Formal Files) files using HP ScanJet IIC for autoradiograms and a KODAK DCS 200 camera for PCR gels and using SigmaPlot software to analyze these TIFF files. Analysis of DNA from fragile X patients revealed poorly visible bands and smears from autoradiograms very well on TIFF files. Utilizing these files, nondiscrete bands and smears have been characterized and converted into meaningful peaks. Comparisons have been made to the respective chromosomal bands from patients and from controls and facilitated easy calculation of gene dosages. A major advantage of TIFF files is the archiving of innumerable nucleic acid blots on convenient floppy disks. These stored files could serve as a ready source of review and recall and aid in the proficiency testing and in laboratory inspections such as CAP or state inspections. They are also a ready source for publication and interlaboratory comparisons using a modem or transport by floppy without jeopardizing the quality. The TIFF patient data from our laboratory of different genetic conditions and their supplemental diagnostic value will be presented.

OSTI ID:
134368
Report Number(s):
CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1101
Journal Information:
American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English