title: Identification of a rare mutation in a TH01 primer binding site.
abstract: We experienced a difficult case of TH01 typing. Instability of TH01 allele 9.3 was observed using GenePrint STR System TH01. Allele dropout was observed when an AmpFlSTR Profiler Kit was subsequently used for confirmation of the TH01 type. Use of the PowerPlex 16 System made it possible to detect allele 9.3. As a result of sequencing, a single point mutation (G-to-A transition) located 37 bases upstream of the first TCAT motif of the repeat region was identified as the cause of the allele dropout during use of the AmpFlSTR Profiler Kit. This mutation was located at the 3' end of the forward primers of the AmpFlSTR Profiler Kit and GenePrint STR System TH01.
authors.affiliation: Criminal Investigation Laboratory, Gifu Prefectural Police Headquarters, 2-1-1 Yabuta minami, Gifu City, Gifu 500-8501, Japan. tomohirot2001@yahoo.co.jp
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Takayama
authors.forename: Naoki
authors.initials: N
authors.lastname: Takada
authors.forename: Rie
authors.initials: R
authors.lastname: Suzuki
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Nagaoka
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Watanabe
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000737:chemistry; D016172:DNA Fingerprinting / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods; D004586:Electrophoresis; D005260:Female; D053803:Forensic Genetics / Q000379:methods*; D005838:Genotype; D006801:Humans; D007564:Japan; D019656:Loss of Heterozygosity / Q000235:genetics*; D035002:Lower Extremity; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000737:chemistry; D009262:Nails / Q000737:chemistry; D016133:Polymerase Chain Reaction; D020080:Tandem Repeat Sequences; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
chemical_list: D014446:Tyrosine 3-Monooxygenase