RESUMO
Huntingtons disease (HD) is a hereditary disorder involving the central nervous system. Its effects are devastating, to the affected person as well as his family. The Department of Medical and Molecular Genetics at Indiana University (IU) plays an integral part in Huntingtons research by providing computerized repositories of HD family information for researchers and families. The National Huntingtons Disease Research Roster, founded in 1979 at IU, and the Huntingtons Disease in Venezuela Project database contain information that has proven to be invaluable in the worldwide field of HD research. This paper addresses the types of information stored in each database, the pedigree database program (MEGADATS) used to manage the data, and significant findings that have resulted from access to the data.
Assuntos
Algoritmos , Bases de Dados Factuais , Doença de Huntington/genética , Sistemas Computadorizados de Registros Médicos , Software , Feminino , Humanos , Indiana , Masculino , Linhagem , Sistema de Registros , VenezuelaRESUMO
Nine oral morphologic characters were investigated. Their frequencies are compared with those published for other populations. The possibility of using such characters to estimate genetic distance between populations is discussed and the conclusion is reached that, although previous studies have suggested this to be a valid approach, further studies testing this subject are needed.
Assuntos
Frequência do Gene , Indígenas Centro-Americanos , Anormalidades Dentárias , Adolescente , Adulto , Idoso , Criança , Feminino , Guatemala , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Dente/anatomia & histologiaRESUMO
Linkage analysis of Kell:PTC loci demonstration close linkage, theta = 0.045 with a lod score of 10.78. The results, which include the Sutter blood group, support the hypothesis that Sutter is a part of the Kell system.