title: Detection of a novel single nucleotide polymorphism of the human thiopurine s-methyltransferase gene in a Chinese individual.
abstract: A 62-year-old Chinese patient with recurrent pompholyx submitted his blood sample for pre-treatment thiopurine S-methyltransferase (TPMT) pharmacogenetic profiling, and it was found to harbour a novel single nucleotide polymorphism (SNP). The novel SNP, detected by mRNA sequencing, was a c.2T>C (g.11018T>C) transition in the start codon, causing a Met1Thr amino acid change. This finding was confirmed on a subsequent blood sample from the same patient by DNA sequencing. The patient was genotyped as TPMT*1/*29, sequentially named as such following the latest TPMT SNP (TPMT*1/*28) at the time of writing. The novel SNP is expected to result in complete lack of protein translation, similar to the impact exerted by TPMT*14, another start codon SNP of the TPMT gene.
authors.affiliation: Molecular Diagnosis Centre, Singapore, Singapore.
authors.forename: Chun Kiat
authors.initials: CK
authors.lastname: Lee
authors.forename: Tze Ping
authors.initials: TP
authors.lastname: Loh
authors.forename: Soon Tee
authors.initials: ST
authors.lastname: Wong
authors.forename: Hong Kai
authors.initials: HK
authors.lastname: Lee
authors.forename: Pei Tee
authors.initials: PT
authors.lastname: Huan
authors.forename: Lily-Lily
authors.initials: LL
authors.lastname: Chiu
authors.forename: Evelyn Siew-Chuan
authors.initials: ES
authors.lastname: Koay
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D018387:Codon, Initiator; D005838:Genotype; D006801:Humans; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods; D017423:Sequence Analysis, RNA / Q000379:methods
chemical_list: D018387:Codon, Initiator; D008780:Methyltransferases; C022745:thiopurine methyltransferase