Major gene and multifactorial inheritance of mandibular prognathism


Autoria(s): CRUZ, Ricardo Machado; KRIEGER, Henrique; FERREIRA, Ricardo; MAH, James; HARTSFIELD JR., James; OLIVEIRA, Silviene
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

20/10/2012

20/10/2012

2008

Resumo

Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. (C) 2007 Wiley-Liss, Inc.

Identificador

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.146A, n.1, p.71-77, 2008

1552-4825

http://producao.usp.br/handle/BDPI/28647

10.1002/ajmg.a.32062

http://dx.doi.org/10.1002/ajmg.a.32062

Idioma(s)

eng

Publicador

WILEY-BLACKWELL

Relação

American Journal of Medical Genetics Part A

Direitos

restrictedAccess

Copyright WILEY-BLACKWELL

Palavras-Chave #mandibular prognathism #segregation analysis #major gene #multifactorial #COMPLEX SEGREGATION ANALYSIS #CLASS-III MALOCCLUSIONS #RABBIT #Genetics & Heredity
Tipo

article

original article

publishedVersion