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

Callahan, N and Modesto, A and Deeley, K and Meira, R and Vieira, AR (2009) Transforming growth factor-alfa gene (TGFA), human tooth agenesis, and evidence of segmental uniparental isodisomy. European Journal of Oral Sciences, 117 (1). 20 - 26. ISSN 0909-8836

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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. © 2009 The Authors.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Callahan, N
Modesto, A
Deeley, K
Meira, R
Vieira, ARarv11@pitt.eduARV11
Date: 1 February 2009
Date Type: Publication
Journal or Publication Title: European Journal of Oral Sciences
Volume: 117
Number: 1
Page Range: 20 - 26
DOI or Unique Handle: 10.1111/j.1600-0722.2008.00593.x
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0909-8836
MeSH Headings: Adult; Anodontia--genetics; Bicuspid--abnormalities; Female; Haplotypes; Humans; Incisor--abnormalities; Linkage Disequilibrium; Loss of Heterozygosity--genetics; Male; Pedigree; Tumor Necrosis Factor-alpha--genetics; Uniparental Disomy--genetics
PubMed ID: 19196314
Date Deposited: 20 Sep 2012 20:13
Last Modified: 20 Feb 2020 13:55


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