| 1083 Fine Mapping of the Interval for Hereditary Gingival Fibromatosis Locus | ||
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Z. BIAN1, X.Q. YE1, L.S. SHI2, S.Z. HUANG2, M.W. FAN1, Y.Z. WANG1, M. NIE1, and Y.N. SONG1, 1Wuhan University School of Stomatology, Wuhan, Hubei, China, 2Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China Objective:Hereditary gingival fibromatosis (HGF, MIM 135300) is a highly heterogeneous condition.To date, at least 2 genetic loci on the 2p and a new locus on 5q13-q22 that are responsible for HGF were identified.According to the 2p,one locus was mapped to 2p21 in a Brazil family and an insertion mutation was found in the son of sevenless-1 (SOS1)gene,the other was located more closely in the region of 2p13-p16.However,the SOS1 gene locus is ~1.3Mb centromeric to the linkage interval reported in 4 Chinese HGF families.Whether there is another distinct loci in the proximity on 2p21 causing HGF inChinese is unknown.The purpose of our study was to map the gene responsible for HGF in Chinese families.Materials and Methods:In the current investigation,we have collected 5 multiple-generation families with fully penetrant,autosomal dominant HGF from China.All affected family members underwent a dilated oral examination presenting with HGF during the eruption of teeth,transmitted as autosomal dorminant trait,and there is demonstrable diversity in the expressivity even within individuals from the same kindred.Informed consent was obtained from all participants and 13 highly polymorphic fluorescent-labeled microsatellite DNA markers were selected for genotyping.Chromosome haplotypes were carefully constructed from tracing informative Mendelian transmission of parental and grandparental alleles to siblings.Results:The identification of shared disease haplotype indicated 5 pedigrees to be tightly linked to 2p21.Detection of ancestral and intrafamilial recombination events in patients refined the HGF locus to a 3.8cM interval.Two-point linkage analysis was conducted and the maximum LOD SCORE was 2.96(theta=0). We have excluded the majority of an examined strong candidate gene as the causative gene.Mutation screening for the remaining genes are now being performed.Conclusions:we have refined the HGF locus to a 3.8cM interval at 2p21,facilitate mapping of the candidate genes in the critical genetic interval.One of these strong candidate genes was screened and was excluded as the causative gene. | ||
| Seq #114 - Genetic Polymorphism in Periodontal Diseases 10:15 AM-11:30 AM, Thursday, 11 March 2004 Hawaii Convention Center Exhibit Hall 1-2 | ||
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