A Case of Amelogenin Y-null: A simple primer binding site mutation or unusual genetic anomaly?

Carey Davis, María Illescas, Carmen Tirado, Roberto Lopez, Bruce Budowle, Tracey Dawson Cruz

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

A thirteen year old boy was murdered by a gunshot wound to the head. In order to confirm identity of the boy, samples were sent to the Instituto de Ciencias Forenses de Puerto Rico (PR-ICF) DNA laboratory. Autosomal DNA results exhibited only an X at the Amelogenin locus, whereas the autopsy results reported the child to be anatomically male. The sample was amplified with four separate YSTR marker systems. While a full Y-STR profile for the father of the boy was obtained, the boy only amplified at STR markers on the p arm of the Y chromosome. Theories that could account for this large absence of Y-STR results include an X-Y translocation or Yp isochromosome.

Original languageEnglish
Pages (from-to)320-323
Number of pages4
JournalLegal Medicine
Volume14
Issue number6
DOIs
StatePublished - 1 Nov 2012

Keywords

  • Forensic DNA analysis
  • Null allele
  • STR
  • Y chromosome

Fingerprint Dive into the research topics of 'A Case of Amelogenin Y-null: A simple primer binding site mutation or unusual genetic anomaly?'. Together they form a unique fingerprint.

  • Cite this