Instituto Gulbenkian de Ciencia, 2781-901 Oeiras, Portugal.
Infect Genet Evol. 2013 Aug;18:238-46. doi: 10.1016/j.meegid.2013.04.028. Epub 2013 May 3.
Human tuberculosis is an infectious disease caused by bacteria from the Mycobacterium tuberculosis complex (MTBC). Although spoligotyping and MIRU-VNTR are standard methodologies in MTBC genetic epidemiology, recent studies suggest that Single Nucleotide Polymorphisms (SNP) are advantageous in phylogenetics and strain group/lineages identification. In this work we use a set of 79 SNPs to characterize 1987 MTBC isolates from Portugal and 141 from Northeast Brazil. All Brazilian samples were further characterized using spolygotyping. Phylogenetic analysis against a reference set revealed that about 95% of the isolates in both populations are singly attributed to bacterial lineage 4. Within this lineage, the most frequent strain groups in both Portugal and Brazil are LAM, followed by Haarlem and X. Contrary to these groups, strain group T showed a very different prevalence between Portugal (10%) and Brazil (1.5%). Spoligotype identification shows about 10% of mis-matches compared to the use of SNPs and a little more than 1% of strains unidentifiability. The mis-matches are observed in the most represented groups of our sample set (i.e., LAM and Haarlem) in almost the same proportion. Besides being more accurate in identifying strain groups/lineages, SNP-typing can also provide phylogenetic relationships between strain groups/lineages and, thus, indicate cases showing phylogenetic incongruence. Overall, the use of SNP-typing revealed striking similarities between MTBC populations from Portugal and Brazil.
人结核病是一种由结核分枝杆菌复合群(MTBC)细菌引起的传染病。尽管 spoligotyping 和 MIRU-VNTR 是 MTBC 遗传流行病学的标准方法,但最近的研究表明,单核苷酸多态性(SNP)在系统发育和菌株群/谱系鉴定方面具有优势。在这项工作中,我们使用了一组 79 个 SNP 来描述来自葡萄牙的 1987 株 MTBC 分离株和来自巴西东北部的 141 株 MTBC 分离株。所有巴西样本都进一步用 spoligotyping 进行了特征描述。针对参考集的系统发育分析表明,两个群体中的约 95%的分离株都单独归因于细菌谱系 4。在这个谱系中,葡萄牙和巴西最常见的菌株群是 LAM,其次是 Haarlem 和 X。与这些菌株群相反,T 菌株组在葡萄牙(10%)和巴西(1.5%)之间的流行率非常不同。 spoligotype 鉴定与 SNP 的使用相比,大约有 10%的不匹配,而菌株无法识别的比例略高于 1%。不匹配现象出现在我们样本集中最具代表性的群体中(即 LAM 和 Haarlem),其比例几乎相同。除了在鉴定菌株群/谱系方面更准确之外,SNP 分型还可以提供菌株群/谱系之间的系统发育关系,从而指示显示系统发育不一致的病例。总体而言,SNP 分型的使用揭示了葡萄牙和巴西的 MTBC 人群之间惊人的相似性。