Genealogical data in population medical genetics: Field guidelines.
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.
Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brazil . ; Latin American Collaborative Study of Congenital Malformations, Center for Medical Education and Clinical Research, Buenos Aires, Argentina .
Fernando A
FA
Poletta
Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brazil . ; Departamento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil .
Ieda M
IM
Orioli
Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, RJ, Brazil . ; Latin American Collaborative Study of Congenital Malformations, Center for Medical Education and Clinical Research, Buenos Aires, Argentina .
Eduardo E
EE
Castilla
geographic clusters; isolates; medical genetics; population medical genetics; rare diseases