Premium
Characterization of Deletions in the DYS385 Flanking Region and Null Alleles Associated with AZFc Microdeletions in Koreans
Author(s) -
Park Myung Jin,
Shin KyoungJin,
Kim Na Young,
Yang Woo Ick,
Cho SangHo,
Lee Hwan Young
Publication year - 2008
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/j.1556-4029.2008.00660.x
Subject(s) - genetics , biology , amplicon , locus (genetics) , allele , primer (cosmetics) , null allele , multiplex polymerase chain reaction , microsatellite , polymerase chain reaction , gene , chemistry , organic chemistry
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.