Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.

Author(s): Jinks DC, Minter M, Tarver DA, Vanderford M, Hejtmancik JF, McCabe ER

Publication: Hum Genet, 1989, Vol. 81, Page 363-6

PubMed ID: 2703239 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of DBS fixation, punch size, and DNA extraction method on DNA yield and determination of the sickle cell trait genotype.

   Summary of Findings:

   DNA could be extracted from specimens as small as a 1/8 inch punch. The yield of DNA was decreased when DBS were fixed by autoclave, but the DNA yield increased when DBS were fixed with methanol compared to DBS that were not fixed. Both DNA extraction methods allowed for determination of the sickle cell trait genotype.

   Biospecimens

   • Bodily Fluid - Blood

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Other diagnoses
   • Normal

   Platform:

   Analyte	Technology Platform
   DNA	PCR
   DNA	Dot blot or slot blot

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Analyte Extraction and Purification	Analyte isolation method	Lysis followed by phenol chloroform extraction Boiling
   Biospecimen Preservation	Type of fixation/preservation	Air-dried Methanol Autoclave
   Biospecimen Aliquots and Components	Aliquot size/volume	1/8 inch punch 2 x 1/8 inch punches 1/4 inch punch 2 x 1/4 inch punches
   Preaquisition	Patient genotype	Wildtype Homozygous sickle cell trait Heterozygous sickle cell trait

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