Genealogical data in population medical genetics: field guidelines

Genetics and Molecular Biology

Fernando A. Poletta¹  Ieda M. Orioli¹  Eduardo E. Castilla¹ 

[1] ,Instituto Nacional de Genética Médica PopulacionalRio de Janeiro RJ ,Brazil

关键词: medical genetics;    population medical genetics;    geographic clusters;    isolates;    rare diseases;   

DOI  :  10.1590/S1415-47572014000200004

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License