5 2018年分子遗传室间质评总结.pptxVIP

药物代谢基因多态性及分子遗传项目 室间质评总结;上海市临床检验中心开展临床药物 代谢基因多态性EQA情况;;评价方式;;;上海市临床检验中心开展分子遗传 基因检测EQA情况;;;;结果评价—耳聋基因;结果评价—PKU;结果评价—NIPT;;规范命名— HGVS rule;规范命名—HGVS rule;a letter prefix should be used to indicate the type of reference sequence used “c.” for a coding DNA sequence (e.g. c.76AT) g. for a genomic sequence (e.g. g.476AT) m. for a mitochondrial sequence (e.g. m.8993TC) n for a non-coding RNA reference sequence (gene producing an RNA transcript but not a protein) r. for an RNA sequence (e.g. r.76au) p. for a protein sequence (e.g. p.Lys76Asn);规范命名;