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对CARTaGENE项目(加拿大魁北克)大量参与者进行的深度谱系分析。

Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada).

作者信息

Tremblay Marc, Rouleau Gabrielle

机构信息

a Département des Sciences Humaines et Sociales , Université du Québec à Chicoutimi , Chicoutimi , Québec , Canada.

出版信息

Ann Hum Biol. 2017 Jun;44(4):357-365. doi: 10.1080/03014460.2017.1300326. Epub 2017 Mar 21.

DOI:10.1080/03014460.2017.1300326
PMID:28325067
Abstract

BACKGROUND

Genealogical analysis helps to better understand the genetic structure of populations. The population of Quebec (Canada) often serves as a model for this type of analysis, having one of the world's most complete genealogical databases.

AIM

The main objective of this study was to reconstruct, analyse and compare the ascending genealogies of participants to CARTaGENE, a project that aims at building a database on various aspects of public health.

SUBJECTS AND METHODS

In total, 5110 genealogies from four Quebec regions were reconstructed. Distribution of ancestors, completeness and depth of the genealogies, characteristics of immigrant ancestors and kinship and inbreeding coefficients were analysed.

RESULTS

Most genealogies go back to the 17th century, with a mean genealogical depth of 10 generations. Origins of immigrant ancestors are more diverse in the Montreal region, resulting in lower inbreeding and kinship among the participants from this region. Inbreeding and kinship values are mainly explained by remote genealogical links (from 6 to 11 generations).

CONCLUSION

Deep genealogies allowed for a precise measurement of the geographic origins of the participants' immigrant ancestors, as well as inbreeding and kinship ties in the population, which may be crucial for studies aiming to identify genetic variations associated with Mendelian or complex diseases.

摘要

背景

系谱分析有助于更好地理解人群的遗传结构。加拿大魁北克省的人群常被用作这类分析的模型,拥有世界上最完整的系谱数据库之一。

目的

本研究的主要目的是重建、分析和比较参与CARTaGENE项目者的上代系谱,该项目旨在建立一个关于公共卫生各方面的数据库。

对象与方法

总共重建了来自魁北克四个地区的5110个系谱。分析了祖先的分布、系谱的完整性和深度、移民祖先的特征以及亲属关系和近亲繁殖系数。

结果

大多数系谱可追溯到17世纪,系谱平均深度为10代。蒙特利尔地区移民祖先的来源更多样化,导致该地区参与者的近亲繁殖和亲属关系较低。近亲繁殖和亲属关系值主要由较远的系谱联系(6至11代)解释。

结论

深入的系谱能够精确测量参与者移民祖先的地理来源,以及人群中的近亲繁殖和亲属关系,这对于旨在识别与孟德尔病或复杂疾病相关的基因变异的研究可能至关重要。

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