A New Locus for Hereditary Gingival Fibromatosis (GINGF2) Maps to 5q13–q22
| Autor: | Minghua Yang, Xiangyin Kong, Landian Hu, Guangyong Zheng, Meiqian Qian, Shangxi Xiao, Jing Liu, Liqin Zhu, Lei Bu, Guoping Zhao |
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| Rok vydání: | 2001 |
| Předmět: |
Genetic Markers
Male China Genotype Genetic Linkage Gingiva Locus (genetics) Disease Biology Gene mapping Genetics medicine Humans Age of Onset Gene Fibromatosis Gingival Family Health Haplotype Fibromatosis medicine.disease Phenotype Hereditary gingival fibromatosis Pedigree Haplotypes Calcium-Calmodulin-Dependent Protein Kinases Chromosomes Human Pair 5 Female Lod Score Calcium-Calmodulin-Dependent Protein Kinase Type 4 |
| Zdroj: | Genomics. 74:180-185 |
| ISSN: | 0888-7543 |
| Popis: | Gingival fibromatosis ( GINGF ) is an oral disorder characterized by enlargement of the gingiva. It occurs either as the sole phenotype or combined with other symptoms. Thus far, one GINGF locus has been mapped on chromosome 2, at 2p21, and a second possible locus has been mapped to 2p13. However, the genes responsible for this disorder have not been elucidated. We identified a four-generation Chinese GINGF family in which the disease manifests within 1 year after birth. After exclusion of the two known GINGF loci in this family, we performed a genome-wide search to map the chromosome location of the responsible gene. We identified a new locus, GINGF2, on chromosome 5q13–q22 with a maximum two-point lod score of 4.31 at D5S1721 (θ = 0.00). Haplotype analysis placed the critical region in the interval defined by D5S1491 and D5S1453. Within this region, calcium/calmodulin-dependent protein kinase IV ( CAMK4 ) is a strong candidate. |
| Databáze: | OpenAIRE |
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