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Characterization of deletions in the DYS385 flanking region and null alleles associated with AZFc microdeletions in Koreans

Authors
 Myung Jin Park  ;  Kyoung-Jin Shin  ;  Na Young Kim  ;  Woo Ick Yang  ;  Sang-Ho Cho  ;  Hwan Young Lee 
Citation
 JOURNAL OF FORENSIC SCIENCES, Vol.53(2) : 331-334, 2008 
Journal Title
 JOURNAL OF FORENSIC SCIENCES 
ISSN
 0022-1198 
Issue Date
2008
MeSH
Asian Continental Ancestry Group/genetics ; Chromosomes, Human, Y ; Genetic Loci ; Humans ; Korea ; Male ; Polymerase Chain Reaction ; Seminal Plasma Proteins/genetics* ; Sequence Analysis, DNA ; Sequence Deletion* ; Tandem Repeat Sequences ; Terminal Repeat Sequences*
Keywords
forensic science ; Y-chromosomal short tandem repeat ; DYS385 ; DYS448 ; flanking region mutation ; null allele ; AZFcdele-tion ; Koreans
Abstract
Eight DYS385 allele size discrepancies and six DYS448 null types were detected among 708 Korean men when results of three in-house multiplex short tandem repeat (STR) systems were compared. The systems included both ordinary and reduced size amplicons. Sequence analysis revealed deletion mutations at two sites upstream of the DYS385 core repeats and deletion of the entire DYS448 locus. At DYS385, allele size differences were one or two repeats and were dependent on the primer set used for polymerase chain reaction (PCR) amplification. Location of the primer target sequence in a flanking region of the STR, distal or proximal to the deletion, determined allele size. Two widely used commercial kits amplify DYS385 so as to include the mutable sites. Arrangement analysis of sequence tagged sites demonstrated that the deletion patterns at DYS448 (and DYS464) were associated with arrangements of the azoospermia factor c gene (AZFc). The DYS448 deletion appears relatively frequent in Asians.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1556-4029.2008.00660.x/abstract
DOI
10.1111/j.1556-4029.2008.00660.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Na Young(김나영)
Park, Myung Jin(박명진)
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Yang, Woo Ick(양우익) ORCID logo https://orcid.org/0000-0002-6084-5019
Lee, Hwan Young(이환영)
Cho, Sang Ho(조상호)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106446
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