一例牙釉蛋白Y缺失病例：简单的引物结合位点突变还是罕见的基因异常？

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

作者信息

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

机构信息

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.

出版信息

Leg Med (Tokyo). 2012 Nov;14(6):320-3. doi: 10.1016/j.legalmed.2012.05.002. Epub 2012 Jun 20.

DOI:10.1016/j.legalmed.2012.05.002

PMID:22721879

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.

摘要

一名13岁男孩头部遭枪击身亡。为确认该男孩身份，样本被送往波多黎各法医科学研究所（PR - ICF）DNA实验室。常染色体DNA检测结果显示，牙釉蛋白基因座仅出现一个X，而尸检结果表明该儿童在解剖学上为男性。该样本用四个独立的Y染色体短串联重复序列（YSTR）标记系统进行扩增。虽然获得了男孩父亲完整的YSTR图谱，但该男孩仅在Y染色体短臂上的STR标记处扩增。能够解释YSTR结果大量缺失的理论包括X - Y易位或Yp等臂染色体。