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

作者：Davis Carey^*; Illescas Maria; Tirado Carmen; Lopez Roberto; Budowle Bruce; Cruz Tracey Dawson

来源：Legal Medicine, 2012, 14(6): 320-323.

DOI：10.1016/j.legalmed.2012.05.002

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

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.

• 出版日期2012-11