| Autor: |
Xiao, Shangxi, Bu, Lei, Zhu, Liqin, Zheng, Guangyong, Yang, Minghua, Qian, Meiqian, Hu, Landian, Liu, Jing, Zhao, Guoping, Kong, Xiangyin |
| Zdroj: |
Genomics; June 2001, Vol. 74 Issue: 2 p180-185, 6p |
| Abstrakt: |
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 GINGFlocus 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 GINGFfamily in which the disease manifests within 1 year after birth. After exclusion of the two known GINGFloci 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 D5S1491and D5S1453.Within this region, calcium/calmodulin-dependent protein kinase IV (CAMK4) is a strong candidate. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
Full Text from ScienceDirect