Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Mar;37(1 Suppl):171-85.
doi: 10.1590/s1415-47572014000200004.

Genealogical data in population medical genetics: Field guidelines

Fernando A Poletta  1 , Ieda M Orioli  2 , Eduardo E Castilla  1
Affiliations
Review

Genealogical data in population medical genetics: Field guidelines

Fernando A Poletta et al. Genet Mol Biol. 2014 Mar.

Abstract

This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources.

Keywords: geographic clusters; isolates; medical genetics; population medical genetics; rare diseases.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Graphical pedigree of the tabulated genealogy shown in Table 1.
Figure 2
Figure 2
A “key” variable enables the merging of different data sets into customized job files according to specific requirements for data analysis.
See this image and copyright information in PMC

References

    1. Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA. Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County. Genome Res. 1998;8:171–221. - PubMed
    1. Alvarez-Gardeazábal G. El Divino, Plaza & Janés; Bogotá: 1986. p. 233.
    1. Bailliet G, Castilla EE, Adams JP, Orioli I, Martínez-Marignac V, Richard SM, Bianchi N. Correlation between molecular and conventional genealogies in Aicuña: A rural population from Northwestern Argentina. Hum Hered. 2001;51:150–159. - PubMed
    1. Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2008;17:424–433. - PubMed
    1. Bronberg RA, Dipierri JE, Alfaro EL, Barrai I, Rodriguez-Larralde A, Castilla EE, Colonna V, Rodriguez-Arroyo G, Bailliet G. Isonymy structure of Buenos Aires city. Hum Biol. 2009;81:447–461. - PubMed

Internet Resources

    1. S.A.G.E. (2012). Statistical Analysis for Genetic Epidemiology. Release 6.3. http://darwin.cwru.edu/.

LinkOut - more resources