A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Research Abstract Details 

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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Abstract Text:

Gustavo Mendoza,Trevor J Pemberton,Kwanghyuk Lee,Raquel Scarel-Caminaga,Ruty Mehrian-Shai,Catalina Gonzalez-Quevedo,Vasiliki Ninis,Jaana Hartiala,Hooman Allayee,Malcolm L Snead,Suzanne M Leal,Sergio R P Line,Pragna I Patel,

Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Publishing Authors By Initials

G Mendoza,TJ Pemberton,K Lee,R Scarel-Caminaga,R Mehrian-Shai,C Gonzalez-Quevedo,V Ninis,J Hartiala,H Allayee,ML Snead,SM Leal,SR Line,PI Patel,

For similar investigative techniques: genetic techniques: pedigree research abstracts see: investigative techniques: genetic techniques: pedigree research

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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Human genetics

VOLUME: 120

Page Numbers: 653-62

Journal Abbreviation: Hum. Genet.

ISSN: 0340-6717

DAY: 21

MONTH: 09

YEAR: 2006

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Information

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LANGUAGE: eng

NlmUniqueID: 7613873

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Keywords Mesh Terms:

KEYWORDS: Pedigree

MESH TERMS: metabolism

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Grant and Affiliation Information for A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

AFFILIATION: Institute for Genetic Medicine, University of Southern California, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033, USA.

Country: Germany

AGENCY: United States NHGRI

GRANT: N01-HG-65403

ACRONYM: HG

MEDLINETA: Hum Genet

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