Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy. 2009

Nicholas Callahan, and Adriana Modesto, and Kathleen Deeley, and Raquel Meira, and Alexandre R Vieira
Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.

We have previously reported an association between variants in the transforming growth factor-alfa gene (TGFA) and human tooth agenesis. To demonstrate in greater detail that TGFA contributes to tooth agenesis, we investigated additional markers in the gene. Cheek swab samples were obtained for DNA analysis from 116 patient/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed using TaqMan assays. Linkage disequilibrium analysis and test of the transmission distortion of the marker alleles were performed. We confirmed that TGFA variants and haplotypes are associated with tooth agenesis. Moreover, it appears that preferential premolar agenesis is associated with TGFA, and patients with a family history of tooth agenesis would have an associated haplotype. Finally, we excluded that a TGFA microdeletion could cause sporadic agenesis in a case of upper lateral incisors and lower second premolars and suggest this case may be consequence of a segmental uniparental isodisomy.

UI MeSH Term Description Entries
D007180 Incisor Any of the eight frontal teeth (four maxillary and four mandibular) having a sharp incisal edge for cutting food and a single root, which occurs in man both as a deciduous and a permanent tooth. (Jablonski, Dictionary of Dentistry, 1992, p820) Incisors
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260 Female Females
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000848 Anodontia Congenital absence of the teeth. It may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), or six or more of the teeth (oligodontia) and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. Dental Agenesis, Familial,Familial Dental Agenesis,Familial Tooth Agenesis,Hypodontia,Oligodontia,Partial Anodontia,Total Anodontia,Hypodontia Oligodontia 1,Tooth Agenesis, Familial,Tooth Agenesis, Selective, 1,Agenesis, Familial Dental,Agenesis, Familial Tooth,Anodontia, Partial,Anodontia, Total,Familial Dental Ageneses,Familial Tooth Ageneses,Oligodontia 1, Hypodontia,Oligodontias,Partial Anodontias,Total Anodontias
D001641 Bicuspid One of the eight permanent teeth, two on either side in each jaw, between the canines (CUSPID) and the molars (MOLAR), serving for grinding and crushing food. The upper have two cusps (bicuspid) but the lower have one to three. (Jablonski, Dictionary of Dentistry, 1992, p822) Premolar,Bicuspids,Premolars
D014409 Tumor Necrosis Factor-alpha Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS. Cachectin,TNF-alpha,Tumor Necrosis Factor Ligand Superfamily Member 2,Cachectin-Tumor Necrosis Factor,TNF Superfamily, Member 2,TNFalpha,Tumor Necrosis Factor,Cachectin Tumor Necrosis Factor,Tumor Necrosis Factor alpha

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