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

被引：6

作者：

Davis, Carey ^{[1
]}

Illescas, Maria ^{[2
]}

Tirado, Carmen ^{[3
]}

Lopez, Roberto ^{[3
]}

Budowle, Bruce ^{[1
]}

Cruz, Tracey Dawson ^{[4
]}

机构：

[1] Univ N Texas, Hlth Sci Ctr, Inst Appl Genet, Dept Forens & Investigat Genet, Ft Worth, TX 76107 USA

[2] Univ Basque Country, Dept Anim Zool & Cellular Biol, BIOMICs Res Grp, Vitoria, Spain

[3] Inst Ciencias Forenses Puerto Rico, Caparra Hts Stn, San Juan, PR 00922 USA

[4] Virginia Commonwealth Univ, Dept Forens Sci & Biol, Richmond, VA 23284 USA

来源：

LEGAL MEDICINE | 2012年 / 14卷 / 06期

关键词：

Forensic DNA analysis; Y chromosome; STR; Null allele; SEX TEST; INACTIVATION; VALIDATION; CENTROMERE; DELETION;

D O I：

10.1016/j.legalmed.2012.05.002

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

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. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

引用

页码：320 / 323

页数：4

共 14 条

[1] X-Y TRANSLOCATION IN AN ADOLESCENT MENTALLY NORMAL PHENOTYPIC MALE WITH FEATURES OF HYPOGONADISM [J].