A case of Amelogenin Y-null: a simple primer binding site mutation or unusual genetic anomaly?
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.
Institute of Applied Genetics, Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, United States. Carey.davis@unthsc.edu
Carey
C
Davis
María
M
Illescas
Carmen
C
Tirado
Roberto
R
Lopez
Bruce
B
Budowle
Tracey Dawson
TD
Cruz
D000293:Adolescent; D053523:Amelogenin / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D016172:DNA Fingerprinting / Q000379:methods; D053803:Forensic Genetics / Q000379:methods*; D006708:Homicide; D006801:Humans; D008297:Male; D009154:Mutation; D012732:Sex Determination Analysis / Q000379:methods; D014948:Wounds, Gunshot
D053523:Amelogenin