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

التفاصيل البيبلوغرافية
العنوان: A Case of Amelogenin Y-null: A simple primer binding site mutation or unusual genetic anomaly?
المؤلفون: Roberto Lopez, Carey Davis, Tracey Dawson Cruz, Bruce Budowle, María José Illescas, Carmen Tirado
المصدر: Legal Medicine. 14:320-323
بيانات النشر: Elsevier BV, 2012.
سنة النشر: 2012
مصطلحات موضوعية: Forensic Genetics, Male, Sex Determination Analysis, Adolescent, Isochromosome, Locus (genetics), Chromosomal translocation, Biology, Y chromosome, Pathology and Forensic Medicine, Humans, Genetics, Chromosomes, Human, Y, Genetic Anomaly, Amelogenin, DNA Fingerprinting, Null allele, Molecular biology, humanities, Issues, ethics and legal aspects, Mutation, Wounds, Gunshot, Chromosome Deletion, Homicide, Primer binding site, geographic locations
الوصف: 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.
تدمد: 1344-6223
DOI: 10.1016/j.legalmed.2012.05.002
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412d92c7b7044514c6858a8300c89258
https://doi.org/10.1016/j.legalmed.2012.05.002
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....412d92c7b7044514c6858a8300c89258
قاعدة البيانات: OpenAIRE
الوصف
تدمد:13446223
DOI:10.1016/j.legalmed.2012.05.002