Laboratory of Molecular Diagnostics, St. Petersburg State Pediatric Medical University, 194100 St. Petersburg, Russia.
Department of Medical Genetics, St. Petersburg State Pediatric Medical University, 194100 St. Petersburg, Russia.
Int J Mol Sci. 2024 Aug 28;25(17):9335. doi: 10.3390/ijms25179335.
There are more than 260 million people of Slavic descent worldwide, who reside mainly in Eastern Europe but also represent a noticeable share of the population in the USA and Canada. Slavic populations, particularly Eastern Slavs and some Western Slavs, demonstrate a surprisingly high degree of genetic homogeneity, and, consequently, remarkable contribution of recurrent alleles associated with hereditary diseases. Along with pan-European pathogenic variants with clearly elevated occurrence in Slavic people (e.g., c.3207C>A and c.1222C>T), there are at least 52 pan-Slavic germ-line mutations (e.g., c.657_661del and c.5266dupC) as well as several disease-predisposing alleles characteristic of the particular Slavic communities (e.g., Polish c.33C>A and Russian c.1562G>A variants). From a clinical standpoint, Slavs have some features of a huge founder population, thus providing a unique opportunity for efficient genetic studies.
全世界有超过 2.6 亿斯拉夫人，他们主要居住在东欧，但在美国和加拿大也占相当大的人口比例。斯拉夫人种，特别是东斯拉夫人和一些西斯拉夫人，表现出惊人的高度遗传同质性，因此与遗传疾病相关的反复出现的等位基因的显著贡献。除了在斯拉夫人中明显高发的泛欧致病性变异（例如 c.3207C>A 和 c.1222C>T）外，至少还有 52 个泛斯拉夫种系突变（例如 c.657_661del 和 c.5266dupC）以及一些特定斯拉夫社区特有的疾病易感等位基因（例如波兰的 c.33C>A 和俄罗斯的 c.1562G>A 变体）。从临床角度来看，斯拉夫人具有一个庞大的创始人群体的一些特征，因此为有效的遗传研究提供了独特的机会。
