Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region – the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

中文翻译：

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无敌的记忆：姓氏分析告诉我们巴西东北部的历史、健康和人口医学遗传学

多项研究表明，巴西东北部是近亲繁殖率高、常染色体隐性遗传病高发地区。迫切需要制定以对该地区先天性异常和罕见遗传病的流行病学监测为重点的公共卫生政策。然而，地域辽阔、社会人口异质性、经济困难以及具有医学遗传学专业知识的专业人员数量少，使战略规划成为一项具有挑战性的任务。可以将姓氏与具有多个中性等位基因的遗传系统进行比较，并允许对人口结构进行一些近似。在这里，超过 3700 万人的姓氏分析与覆盖该地区 9 个州的所有 1794 个城市的健康和社会人口指标相结合。p< 0.001)，同义率在该地区东部较高，在该地区最高基隆博·杜斯·帕尔马雷斯地区——拉丁美洲最大的逃亡奴隶集团。发现同名指数与先天畸形活产率呈正相关（r= 0.268;p< 0.001），两个指标空间相关（GMI = 0.50；p< 0.001)。通过这种方法，获得了有关巴西东北部人群遗传结构的定量信息，这可能是医学领域决策的一种经济且有用的工具。