Polymerase chain reaction facilitates archival autopsy studies of sickle cell disease

Elizabeth A. Manci, Donald E. Culberson, Guey Jen Lee Chen, Vipul Mankad, Vijay V. Joshi, F. K. Fujimura

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Archival autopsy studies of sickle cell disease have often been hampered by inadequate documentation of the genotype. Although the polymerase chain reaction (PCR) has been applied to the prenatal diagnosis of sickle cell disease, its use has not been reported in archival studies of sickle cell disease. In this study, DNAs from formalin-fixed, paraffin-embedded archival tissues were amplified by PCR and analyzed by dot-blot hybridization using allele-specific oligonucleotides. These S and C genotypes for 9 of 10 archival specimens studied blindly were correctly identified by PCR. The tenth specimen consistently failed to amplify by PCR, yielding no result. These data demonstrate the utility of PCR for retrospective identification of the genotype of sickle cell disease. This application of PCR will significantly expand the number of autopsy cases suitable for retrospective studies of the morbidity and mortality of sickle cell disease..

Original languageEnglish
Pages (from-to)75-81
Number of pages7
JournalFetal and Pediatric Pathology
Volume13
Issue number1
DOIs
Publication statusPublished - 1993 Jan 1

Keywords

  • Archival studies
  • Autopsy
  • Polymerase chain reaction
  • Sickle cell disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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