HGVS命名之【插入】Insertion

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Insertion，原文地址http://varnomen.hgvs.org/recommendations/DNA/variant/Insertion/

【插入】Insertion

定义：与参考序列相比，序列中插入一个或多个核苷酸，并且插入序列并非上游序列拷贝

格式：前缀（所使用的参考序列）+ . +插入位置（范围）+ins+插入序列，举例：g.123_124insAGC

要点：

①接受的参考序列包括g. m. c. n.

②“位置”描述应该包含两个侧翼核苷酸，例如123和124，而非123和125

③插入不能用一个核苷酸位置来描述，如g.123insG

④遵循3'规则

⑤串联重复被描述为重复（g.123_456dup），而不是插入（g.456_457ins123_456）；反向重复被描述为插入（g.234_235ins123_234inv），而不是重复 (see Inversion)

⑥当插入的序列很长时，最好提交到数据库（如GenBank）; 所获得的accession.version number可以用于描述变异，如g.123_124insL37425.1：23_361

⑦【有争议】“{ }”（大括号）可用于描述插入序列中的任意改变（与原序列相比），如g.123_124ins100_120{111A>G}

举例：

g.4426_4427insA

the insertion of an A nucleotide between nucleotides g.4426 and g.4427

g.5756_5757insAGG

the insertion of nucleotides AGG between nucleotides g.5756 and g.5757

g.123_124insL37425.1:23_361

the insertion of nucleotides 23 to 361 as described in GenBank file L37425.1 between nucleotides g.123 and g.124

在核苷酸g.123和g.124之间插入核苷酸23至361（如GenBank文件L37425.1中所述）

insertion of inverted duplicated copies  插入反向重复的拷贝（颠换）

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

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

incomplete descriptions, preferably use exact descriptions only信息不完整时，最好仅使用精确的描述

c.(67_70)insG (p.Gly23fs)

the insertion of a G at an unknown position in the sequence encoding amino acid 23

在编码氨基酸23的序列中，于未知位置插入G

g.549_550insN

the insertion of one not specified nucleotide (N) between position g.549 and g.550

在g.549和g.550之间插入一个未指定的核苷酸（N）

g.15431_15432ins(5) (alternatively g.11_12insNNNNN)

the insertion of 5 not specified nucleotides (NNNNN) between position g.15431 and g.15432

在位置g.15431和g.15432之间插入5个未指定的核苷酸（NNNNN）

g.1134_1135ins(100)

the insertion of 100 not specified nucleotides between position g.1134 and g.1135

在位置g.1134和g.1135之间插入100个未指定的核苷酸

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