TY - CHAP
T1 - Molecular Diagnostic Applications in Forensic Science
AU - Budowle, Bruce
AU - Planz, John V.
AU - Campbell, Rowan
AU - Eisenberg, Arthur J.
N1 - Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2009/9
Y1 - 2009/9
N2 - This chapter describes the general characteristics of short tandem repeats on Y chromosomes (Y-STRs) in forensic analyses, analytic procedures for typing Y-STR loci, and general interpretation issues. Y-chromosome DNA resides in the nucleus, but its markers differ in some respects from the autosomal loci. Most of the DNA in the Y-chromosome is non-recombinant, with only the most distal portions of the chromosome able to recombine with the X-chromosome. Barring mutation, the Y-linked DNA types are identical for all paternal relatives, including male siblings. This characteristic is helpful in human identity cases, such as those involving the analysis of the remains of a missing person. In such cases, known paternal relatives can provide reference samples for direct comparison to the unknown Y-linked DNA types. A set of markers residing on the Y-chromosome enable the analysis of samples, such as mixtures composed of minute amounts of male DNA amid a large background of female DNA. Issues to be considered when implementing DNA typing methods for Y-STRs are exemplified and core sets of Y-STR loci are defined. Molecular diagnostic applications in forensic science require the methods to be validated and developed for placing statistical weight on an evidence profile that matches a reference sample profile, quality assurance measures to be implemented, and interpretation guidelines instituted.
AB - This chapter describes the general characteristics of short tandem repeats on Y chromosomes (Y-STRs) in forensic analyses, analytic procedures for typing Y-STR loci, and general interpretation issues. Y-chromosome DNA resides in the nucleus, but its markers differ in some respects from the autosomal loci. Most of the DNA in the Y-chromosome is non-recombinant, with only the most distal portions of the chromosome able to recombine with the X-chromosome. Barring mutation, the Y-linked DNA types are identical for all paternal relatives, including male siblings. This characteristic is helpful in human identity cases, such as those involving the analysis of the remains of a missing person. In such cases, known paternal relatives can provide reference samples for direct comparison to the unknown Y-linked DNA types. A set of markers residing on the Y-chromosome enable the analysis of samples, such as mixtures composed of minute amounts of male DNA amid a large background of female DNA. Issues to be considered when implementing DNA typing methods for Y-STRs are exemplified and core sets of Y-STR loci are defined. Molecular diagnostic applications in forensic science require the methods to be validated and developed for placing statistical weight on an evidence profile that matches a reference sample profile, quality assurance measures to be implemented, and interpretation guidelines instituted.
UR - http://www.scopus.com/inward/record.url?scp=84902038395&partnerID=8YFLogxK
U2 - 10.1016/B978-0-12-374537-8.00026-2
DO - 10.1016/B978-0-12-374537-8.00026-2
M3 - Chapter
AN - SCOPUS:84902038395
SN - 9780123745378
SP - 393
EP - 406
BT - Molecular Diagnostics
PB - Elsevier Ltd
ER -