Abstract:
:Genetic studies of early-onset periodontitis (EOP) are hampered by several factors. These include delayed onset of the trait, an upper age limit of expression of the disease, and lack of phenotypic information for edentulous family members. Segregation analyses of families with EOP support a major locus hypothesis but fail to define clearly the criteria used for diagnosis of the relatives. Confirmation of a proposed mode of inheritance and the identification of risk genes is awaited by means of family linkage studies. It is suggested that a system can be developed for the current and retrospective diagnosis of relatives of EOP probands. In addition, it is hypothesized that the large family presented here is suitable for a linkage study. Relatives of the proband who were unavailable for a full periodontal examination, were edentulous, or were deceased, were diagnosed by means of documented clinical evidence of periodontal disease or from reported case histories. Segregation analysis was performed. Analysis of the power of the pedigree to detect linkage was carried out by means of the SIMLINK program. Three different categories were defined according to the reliability of diagnosis of EOP. Segregation analysis indicated either autosomal-dominant or X-linked-dominant inheritance in this family. The simulations showed lod scores above 3.0 for all locations of the disease gene, and for each category of diagnosis. In conclusion, a method has been developed which can be used for the diagnosis of relatives of EOP probands when ideal clinical data are unavailable. The simulations suggest that this family is suitable for a genetic linkage study with the aim of identifying the location of one or more susceptibility genes.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Hodge PJ,Teague PW,Wright AF,Kinane DFdoi
10.1177/00220345000790031201keywords:
subject
Has Abstractpub_date
2000-03-01 00:00:00pages
857-63issue
3eissn
0022-0345issn
1544-0591journal_volume
79pub_type
杂志文章abstract::With clinical oral examinations not always possible in health surveys, researchers may instead be invited to add questions to a wider health survey. In such situations, an item is needed which adequately represents both clinical and self-reported oral health. This study investigated the clinical validity of Locker's g...
journal_title:Journal of dental research
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