Linkage Analysis Of A HAN Family With Primary Cuetaneous Amyoidosis

Objective:To study the linkage between Primary Cutaneous Amyloidosis and chromosome 1q23,chromosome 5p13.1-q11.2 and the pericentromeric region of chromasome 10.Methods:A four-generation Chinese family was investigated. The total number was 21 in this family.Venous blood samples were taken for genetic analysis from 17 of the family. DNA was extracted from peripheral blood leukocytes. 10 fluorescence labeled microsatellite markers spanning the critical regions on chromosomes were genotyped. These markers included D1S498,D1S484,D1S2878 and D1S196 for the 1q23 region.D5S426,D5S418 and D5S407 for the 5p13.1- q11.2 region. D10S1669, D10S1791 and D10S1746 for the pericentromeric region of chromasome 10. The DNA from each sample was amplified for the 10 markers. After polymerase chain reactions (PCR), PCR products were scanned at ABI 3100 autosequencer. The data of PCR products were analyzed using the software Genemapper3.5. LOD scores were calculated by using LINKAGE v5.1.Results:Among the 10 selected Microsatellite markers, which cover the previously reported regions. The LOD score was <-2 in all microsatellites in the 3 regions. Therefore, the linkage result showed no evidence that the disease locus is linked to any of these selected markers, which excludes the previously reported regions found in other ethnic families.Conclusions:There is no evidence that this Chinese family was linked to one of the following loci: 1q23,5p13.1-q11.2 and the pericentromeric region of chromasome 10. The results indicated that PCA showed genetic heterogeneity and the family might be mapped on another new locus.