OBJECTIVE: To investigate the linkage between the susceptibility locus to keloid and two loci, 15q22.31-q23 and 18q21.1, the authors performed linkage analysis of a pedigree. METHODS: A five-generation Han Chinese family of keloid was investigated and confirmed. Venous blood samples of 32 members in this family were collected for PCR and genetic analysis. Seven microsatellite markers spanning the critical regions on chromosomes 15q22.31-q23 and 18q21.1 were genotyped, and the DNA extracted from each sample was amplified for these markers. The PCR products of them were scanned at ABI PRISM 310 Genetic Analyzer, the eligible genotyping data were used for linkage analysis. The two-point LOD scores were calculated by MLINK program of Linkage5.11. RESULTS: Among the 7 markers, the two-point LOD scores of 5 ones (D15S108, D15S216, D15S534, D18S363, D18S846) were less than -2 at theta = 0, they were excluded the linkage to the disease locus; but the scores of other two (D18S460, D18S467) were either more than 1 at theta = 0.05 & 0.10 and D18S460 was 2.201, which showed linkage to the disease locus in some extent. Conclusions This study firstly reported and provided some evidence that keloid susceptibility locus of Chinese family maybe on chromosome 18q21.1, SMAD and PIAS2 may be the possible genes.
OBJECTIVE: To investigate the linkage between the susceptibility locus to keloid and two loci, 15q22.31-q23 and 18q21.1, the authors performed linkage analysis of a pedigree. METHODS: A five-generation Han Chinese family of keloid was investigated and confirmed. Venous blood samples of 32 members in this family were collected for PCR and genetic analysis. Seven microsatellite markers spanning the critical regions on chromosomes 15q22.31-q23 and 18q21.1 were genotyped, and the DNA extracted from each sample was amplified for these markers. The PCR products of them were scanned at ABI PRISM 310 Genetic Analyzer, the eligible genotyping data were used for linkage analysis. The two-point LOD scores were calculated by MLINK program of Linkage5.11. RESULTS: Among the 7 markers, the two-point LOD scores of 5 ones (D15S108, D15S216, D15S534, D18S363, D18S846) were less than -2 at theta = 0, they were excluded the linkage to the disease locus; but the scores of other two (D18S460, D18S467) were either more than 1 at theta = 0.05 & 0.10 and D18S460 was 2.201, which showed linkage to the disease locus in some extent. Conclusions This study firstly reported and provided some evidence that keloid susceptibility locus of Chinese family maybe on chromosome 18q21.1, SMAD and PIAS2 may be the possible genes.
Authors: Jacklyn N Hellwege; Shirley B Russell; Scott M Williams; Todd L Edwards; Digna R Velez Edwards Journal: Ann Hum Genet Date: 2018-02-27 Impact factor: 1.670