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


研究成果: 雜誌貢獻期刊論文同行評審

2 引文 斯高帕斯(Scopus)


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..

頁(從 - 到)75-81
期刊Fetal and Pediatric Pathology
出版狀態已發佈 - 1993

ASJC Scopus subject areas

  • 兒科、圍產兒和兒童健康
  • 病理學與法醫學


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