HGVS命名之【倒置】Inversion

最近在复习HGVS命名，当做个人翻译笔记吧。

HGVS，全称是Human Genome Variation Society，人类基因组变异协会的缩写。

本周翻译的是第二部分Inversion，原文地址http://varnomen.hgvs.org/recommendations/DNA/variant/Inversion

【倒置】Inversion

定义：与参考序列相比，>1个核苷酸的一段序列（参考序列的反向互补序列）取代原来的序列

格式：前缀（所使用的参考序列）+ . +颠换区域（范围）+inv，举例：g.123_345inv

要点：

①接受的参考序列包括g. m. c. n.

②“颠换区域”应该包含起码2个核苷酸，所以g.234inv是错的；1个核苷酸的反转应该描述为substitution点突变

③遵循3'规则

④反向重复应该描述为“插入”，格式为g.234_235ins123_234inv，而非g.123_456dupinv

⑤蛋白质水平不能用“颠换”，根据序列颠换对蛋白质水平的（预测）结果，变化通常被描述为缺失插入delins或移码frame shift

举例：

g.1077_1080inv

inversion of nucleotides g.1077 to g.1080, changing ..AGGCTGATT.. to ..AGGTCAGTT..

c.77_80inv

inversion of nucleotides c.77 to c.80 (coding DNA reference sequence), changing ..AGGCTGATT.. to ..AGGTCAGTT..

g.203_506inv

inversion of the 304 nucleotides from position g.203 to g.506

g.111754331_111966764inv

a large inversion (212,434 nucleotides) from position g.111754331 to g.111966764

g.122_123ins123_234inv

a copy of nucleotides g.123 to g.234 is inserted, in inverted orientation, 5’ of the original sequence, between nucleotide g.122 and g.123

g.234_235ins123_234inv

a copy of nucleotides g.123 to g.234 is inserted, in inverted orientation, 3’ of the original sequence, between nucleotide g.234 and g.235

g.122_123ins213_234invinsAins123_211inv

an inverted copy of nucleotides g.123 to g.234, with a G>A substitution of nucleotide g.212, is inserted directly 3’ of the original sequence

▲注释： 122_123之间插入的内容可以拆分成3段： ① ins213_234inv  ②insA  ③ins123_211inv

g.122_123ins212_234inv123_199inv

an inverted copy of nucleotides g.123 to g.234, with a deletion from nucleotides g.200 to g.211, is inserted directly 3’ of the original sequence

▲注释： 122_123之间插入的内容可以拆分成2段： ① ins212_234inv  ②ins123_199inv，反向插入的时候中间删去了一段

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