Gene Mapping Of Dyschromatosis Universalis Hereditaria

Objective: To investigate the linkage betwen dyschromatosis universalis hereditaria(DUH) and chromosome 6q24.2-q25.2, 12q21-q23.Method: After acquired the informed consent from family members of a pedigree of DUH in Hubei province, 14 venous blood samples were taken for genetic annalysis from the family. DNA was extracted from these peripheral blood leukocytes. Fluorescence labeled microsatellite markers spanning the targeted regions on chromosomes were chosen and genotyped. These markers included D6S441, D6S308, D6S1581 for Chromosome 6q24.2-q25.2, and D12S101, D12S81, D12S326, D12S1667, D12S346, D12S1598, D12S351, D12S1708 for Chromosome 12q21-q23. DNA from each sample was amplified for the 11 makers by polymerase chain reaction(PCR). These PCR pruducts were scanned on ABI 3130 autosequencer. These data was analyzed using the software Genemapper3.2. LOD score were calculated by using software LINKAGEv5.1. Finally, haplotype analysis was performed by software Cyrillic2.0 to determine the linkage region of DUH.Results: There is no evidence that this pedigree was linked to Chromosome 6q24.2-q25.2 region. Among selected 8 microsatellite markers in Chromosome 12, the LOD score of marker D12S81 and D12S1598 are 2.25 and 1.37 when the recombination fraction is 0.00. Haplotype analysis showed that the disease gene of this pedigree is linked with the region from D12S1667 to D12S351, and the genetic distance is 2.9 cM.Conclusions:The disease locus of DUH is located in the region from D12S1667 to D12S351 (12q21.31-12q21.33), its genetic distance is 2.9 cM.