日本人群中六种人类甲基转移酶基因的197个基因变异的鉴定。
Identification of 197 genetic variations in six human methyltranferase genes in the Japanese population.
作者信息
Saito S, Iida A, Sekine A, Miura Y, Sakamoto T, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y
机构信息
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research, Tokyo, Japan.
出版信息
J Hum Genet. 2001;46(9):529-37. doi: 10.1007/s100380170035.
Methylation is an important event in the biotransformation pathway for many drugs and xenobiotic compounds. We screened DNA from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in six methyltransferase (MT) genes (catechol-O-MT, COMT; guanidinoacetate N-MT, GAMT; histamine N-MT, HNMT; nicotinamide N-MT, NNMT; phosphatidylethanolamine N-MT, PEMT; and phenylethanolamine N-MT, PNMT) by direct sequencing of their entire genomic regions except for repetitive elements. This approach identified 190 SNPs and seven insertion/deletion polymorphisms among the six genes. Of the 190 SNPs, 33 were identified in the COMT gene, 6 in GAMT, 41 in HNMT, 8 in NNMT, 98 in PEMT, and 4 in PNMT. Nine were located in 5' flanking regions, 156 in introns, 10 in exons, and 15 in 3' flanking regions. These variants may contribute to a more precise understanding of possible correlations between genotypes and disease-susceptibility phenotypes or risk for side effects from drugs.
甲基化是许多药物和外源性化合物生物转化途径中的一个重要事件。我们通过对48名日本个体的DNA进行直接测序，以筛查六个甲基转移酶（MT）基因（儿茶酚-O-甲基转移酶，COMT；胍基乙酸N-甲基转移酶，GAMT；组胺N-甲基转移酶，HNMT；烟酰胺N-甲基转移酶，NNMT；磷脂酰乙醇胺N-甲基转移酶，PEMT；苯乙醇胺N-甲基转移酶，PNMT）的单核苷酸多态性（SNP），测序区域为除重复元件外的整个基因组区域。该方法在这六个基因中鉴定出190个SNP和七个插入/缺失多态性。在这190个SNP中，33个在COMT基因中被鉴定出，6个在GAMT中，41个在HNMT中，8个在NNMT中，98个在PEMT中，4个在PNMT中。其中9个位于5'侧翼区域，156个在内含子中，10个在外显子中，15个在3'侧翼区域。这些变异可能有助于更精确地理解基因型与疾病易感性表型或药物副作用风险之间的可能相关性。
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