Abstract: Objective: To detect the mutation of ADAR1 gene in a Chinese Han family with dyschromatosis symmetrica hereditaria(DSH). Methods: linical data and blood samples of the family with DSH were co lected. DNA was extracted from the blood samples of two patients with DSH, two unaffected family members and 100 unrelated healthy controls. All the exons of ADARI gene were amplified by PCR and the product was purified and directly sequenced. Results: A missense mutation of c3232>T(p. R1078C)in the ADARI protein was found in two patients, which was not detected in the unaffected family members and healthy ce trols. Conclusion A missense mutation of c.3232C>T in the ADARI gene may result in the disease of DSH in this family.

Key words: dyschromatosis symmetrica hereditaria, ADAR1 gene, mutation