Genome scan for locus involved in mandibular prognathism in pedigrees from China.

Autor: Qin Li, Feng Zhang, Xin Li, Fengshan Chen
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Zdroj: PLoS ONE, Vol 5, Iss 9, p e815 (2010)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0012678
Popis: BACKGROUND: It is well known that genetic components play an important role in the etiology of mandibular prognathism, but few susceptibility loci have been mapped. METHODOLOGY: In order to identify linkage regions for mandibular prognathism, we analyzed two Chinese pedigrees with 6,090 genome-wide single-nucleotide polymorphism (SNP) markers from Illumina Linkage-12 DNA Analysis Kit (average spacing 0.58 cM). Multipoint parametric and non-parametric (model-free) linkage analyses were used for the pedigrees. PRINCIPAL FINDING: The most statistically significant linkage results were with markers on chromosome 4 (LOD=3.166 and NPL=3.65 with rs 875864, 4p16.1, 8.38 cM). Candidate genes within the 4p16.1 include EVC, EVC2. CONCLUSION: We detected a novel suggestive linkage locus for mandibular prognathism in two Chinese pedigrees, and this linkage region provides target for susceptibility gene identification, a process that will provide important insights into the molecular and cellular basis of mandibular prognathism.
Databáze: Directory of Open Access Journals