Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens.
Author(s): Seltzer WK, Accurso F, Fall MZ, VanRiper AJ, Descartes M, Huang Y, McCabe ER
Publication: Biochem Med Metab Biol, 1991, Vol. 46, Page 105-9
PubMed ID: 1931151 PubMed Review Paper? No
Purpose of Paper
The purpose of this paper was to determine the effects of preservation method and microextraction of DNA on cystic fibrosis screening results.
Conclusion of Paper
Cystic fibrosis genotype determination was concordant between liquid and air-dried blood specimens from each of the 15 patients examined. Further, genotypes in 4 specimens were concordant between 4 mm punch biopsies fixed with methanol and microextracted DNA.
Studies
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Study Purpose
The purpose of this study was to determine the effects of preservation method and microextraction of DNA on cystic fibrosis screening results.
Summary of Findings:
Genotype determination was concordant between liquid and air-dried blood specimens from each of the 15 patients examined. Further, genotypes in 4 of 4 specimens were concordant between 4 mm punch biopsies fixed with methanol and microextracted DNA.
Biospecimens
Preservative Types
- None (Fresh)
- Other Preservative
Diagnoses:
- Not specified
- Cystic Fibrosis
Platform:
Analyte Technology Platform DNA PCR Pre-analytical Factors:
Classification Pre-analytical Factor Value(s) Analyte Extraction and Purification Analyte isolation method Not extracted
Microextraction with proteinase K digestion
Biospecimen Preservation Type of fixation/preservation Air-dried
None (fresh)
Preaquisition Patient genotype Homozygous cystic fibrosis delF508
Heterozygous cystic fibrosis delF508
Homozygous wildtype