最近在復(fù)習(xí)HGVS命名，當(dāng)做個(gè)人翻譯筆記吧露泊。

HGVS棋恼，全稱是Human Genome Variation Society返弹，人類基因組變異協(xié)會(huì)的縮寫锈玉。

本周翻譯的是第二部分Alleles，原文地址http://varnomen.hgvs.org/recommendations/DNA/variant/Alleles

【等位基因變異】Alleles

定義：一條染色體上的一系列變異

等位基因（allele）一般指位于一對(duì)同源染色體的相同位置上控制相對(duì)性狀的一對(duì)基因义起±常——heyi 2018-2-23 09:32:09補(bǔ)充

格式：

一個(gè)等位基因上的變異：前綴（所使用的參考序列）[change1;change2]，舉例： g.[123G>A;345del]

兩個(gè)等位基因上的變異：前綴（所使用的參考序列）[change1];[change2]默终，舉例：g.[123G>A];[345del]

要點(diǎn)：

①人類是二倍體生物椅棺，每個(gè)基因位點(diǎn)有兩個(gè)等位基因，分別遺傳自父母

②當(dāng)2個(gè)變異在同一條染色體上(in cis)齐蔽，應(yīng)描述為g.[variant1;variant2]

③當(dāng)2個(gè)變異在不同染色體上(in trans)两疚，應(yīng)描述為g.[variant1];[variant2]

④當(dāng)2個(gè)變異無法確定是否位于同一條染色體，應(yīng)描述為variant1(;)variant2含滴，不用[ ]诱渤；當(dāng)然，最好能明確順式/反式

⑤基于不同參考序列的2個(gè)變異谈况，不建議應(yīng)用上述規(guī)則（如c.[76A>C];g.[10091C>G]）

最新發(fā)表的指南update中勺美，第4點(diǎn)應(yīng)用錯(cuò)了，具體鏈接見Den Dunnen et al. (2016) ——heyi 備注

舉例：

LRG_199t1:c.[2376G>C;3103del]

one allele (chromosome) of a gene contains two different changes, g.2376G>C and c.3103del. The variants are found?in cis.

LRG_199t1:c.[2376G>C];[3103del]

the two alleles (chromosomes) of a gene each contain a different change, c.2376G>C and c.3103del. A?heterozygous?case (compound heterozygote, e.g. in a recessive disease). The variants are found?in trans.

LRG_199t1:c.[2376G>C];[2376G>C]

both alleles (chromosomes) of a gene contain the same variant, c.2376G>C. A?homozygous?case (e.g. in a recessive disease).NOTE:it is not allowed to shorten this to c.2376[G>C];[G>C] or even c.2376G>C[];[]

隱性遺傳疾病碑韵，等位基因發(fā)生相同的變異→純合子的描述赡茸，不能縮寫

LRG_199t1:c.2376G>C(;)3103del

two variants in a gene, c.2376G>C and c.3103del, but it is not known whether they are on the same or on different alleles (chromosomes).

LRG_199t1:c.[2376G>C];[(2376G>C)]

analysis detects one variant (c.2376G>C), suggesting both alleles (chromosomes) contain this variants but it can not be excluded the other allele is deleted.

“( )”用于表示不確定和預(yù)測(cè)的結(jié)果。

檢測(cè)到一個(gè)突變c.2376G>C祝闻，2個(gè)等位基因都含有這個(gè)突變占卧，但其中一個(gè)不能確定。 ? ?這個(gè)翻譯不是很貼切联喘？意譯——heyi

LRG_199t1:c.[2376G>C];[?]

one allele (chromosomes) of a gene contains a variant, c.2376G>C, while a variant for the other allele is expected but not yet identified (c.?) (e.g. in individuals affected by a recessive disease).

“华蜒？”用于表示未知位置（核苷酸或氨基酸）

表明在一條染色體上明確發(fā)現(xiàn)c.2376G＞C突變，預(yù)測(cè)在另一條染色體上還有一個(gè)突變豁遭，具體不詳

LRG_199t1:c.[296T>G;476T>C;1083A>C];[296T>G;1083A>C]

a sample contains variants c.296T>G and c.1083A>C on both alleles (chromosomes) and variant c.476C>T on only one allele.

一條染色體上有3個(gè)突變友多，另一條染色體上有2個(gè)突變

NM_004006.2:c.[296T>G;476T>C];[476T>C](;)1083A>C

a sample contains a homozygous variant (c.476T>C) and two heterozygous variants (c.296T>G and c.1083G>C) for which it is not known on which allele (chromosome) they are (although at least one, in the example c.296T>G, is on the same allele as c.476T>C).

共有4個(gè)突變，一對(duì)c.476T>C純合+兩個(gè)雜合c.296T>G堤框、c.1083A>C；無法確定兩個(gè)雜合突變的位置（順式/反式）纵柿。也可表示為c.[1083A>C;476T>C];[476T>C](;)296T>G

英文解釋中c.1083G>C寫錯(cuò)了——heyi?

LRG_199t1:c.[296T>G];[476T>C](;)1083G>C(;)1406del

a sample contains heterozygous variants on different alleles (c.296T>G and c.476T>C) and two additional heterozygous variants (c.1083G>C and c.1406del) for which it is not known on which allele (chromosome) they are.

NC_000023.10:g.[30683643A>G;33038273T>G]

one allele (X-chromosome) contains two different variants in two different genes, g.30683643A>G in the GK gene and g.33038273T>G in the DMD gene.

GK和DMD是兩個(gè)間隔的基因蜈抓。這里把a(bǔ)llele理解為X染色體，2個(gè)不同基因的不同突變?cè)谕粭l染色體上（順式）昂儒。

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