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插入缺失多态性(Indels)作为自然种群中的遗传标记。

Insertion-deletion polymorphisms (indels) as genetic markers in natural populations.

作者信息

Väli Ulo, Brandström Mikael, Johansson Malin, Ellegren Hans

机构信息

Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Uppsala, Sweden.

出版信息

BMC Genet. 2008 Jan 22;9:8. doi: 10.1186/1471-2156-9-8.

Abstract

BACKGROUND

We introduce the use of short insertion-deletion polymorphisms (indels) for genetic analysis of natural populations.

RESULTS

Sequence reads from light shot-gun sequencing efforts of different dog breeds were aligned to the dog genome reference sequence and gaps corresponding to indels were identified. One hundred candidate markers (4-bp indels) were selected and genotyped in unrelated dogs (n = 7) and wolves (n = 18). Eighty-one and 76 out of 94 could be validated as polymorphic loci in the respective sample. Mean indel heterozygosity in a diverse set of wolves was 19%, and 74% of the loci had a minor allele frequency of >10%. Indels found to be polymorphic in wolves were subsequently genotyped in a highly bottlenecked Scandinavian wolf population. Fifty-one loci turned out to be polymorphic, showing their utility even in a population with low genetic diversity. In this population, individual heterozygosity measured at indel and microsatellite loci were highly correlated.

CONCLUSION

With an increasing amount of sequence information gathered from non-model organisms, we suggest that indels will come to form an important source of genetic markers, easy and cheap to genotype, for studies of natural populations.

摘要

背景

我们介绍了利用短插入缺失多态性(indels)对自然种群进行遗传分析。

结果

来自不同犬种轻量鸟枪法测序工作的序列读数与犬基因组参考序列进行比对,并识别出与indels对应的缺口。选择了100个候选标记(4碱基对indels),并在无亲缘关系的犬(n = 7)和狼(n = 18)中进行基因分型。94个标记中有81个和76个在各自样本中可被验证为多态性位点。在一组多样化的狼中,indel杂合度均值为19%,且74%的位点次要等位基因频率大于10%。在狼中发现具有多态性的indels随后在遗传瓶颈严重的斯堪的纳维亚狼种群中进行基因分型。结果有51个位点具有多态性,表明它们即使在遗传多样性低的种群中也有用。在这个种群中,在indel和微卫星位点测得的个体杂合度高度相关。

结论

随着从非模式生物收集到的序列信息越来越多,我们认为indels将成为遗传标记的重要来源,用于自然种群研究时基因分型简便且成本低廉。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5480/2266919/411a73aec4fb/1471-2156-9-8-1.jpg

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