期刊
GENETICS AND MOLECULAR RESEARCH
卷 11, 期 2, 页码 1731-1737出版社
FUNPEC-EDITORA
DOI: 10.4238/2012.June.29.5
关键词
Dyschromatosis symmetrica hereditaria (DSH); Mutation analysis; DSRAD gene
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family that included four affected individuals with DSH phenotypes. PCR and direct sequencing were carried out to detect the entire coding region and exon-intron boundaries of the DSRAD gene. A novel nucleotide c. 3002G>T missense mutation in the exon 11 of the DSRAD gene was detected in the proband and his father. This information expands the database on DSRAD gene mutations associated with DSH.
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