研究生文献综述：遗传性对称性色素异常症
【摘要】遗传性对称性色素异常症（DSH）是一种少见的常染色体显性遗传的皮肤病，主要发病于东南亚地区。对DSH的认识经历的宏观到微观的转变，1994年人们开始从基因水平研究DSH，于2003年由中国学者和日本学者完成了对DSH的基因定位并确定了遗传基因为DSRAD。之后的研究集中于DSRAD基因的突变以及突变与表型之间的关系，目前仍然没有十分清楚DSRAD基因引起DSH发病的机制。
【关键词】对称性遗传性色素异常症；DSRAD基因；突变；综述
【Abstract】Dyschromatosis Symm etrica Hereditary(DSH) as a scarce autosome dominant disease was often found in south east Asia. It began to research DSH in 1994, until 2003 DSRAD gene was discovered by Chinese and Japanese scholars.Latre, the srudy of DSH was concentrate on mutations of DSRAD gene.But until now the pathogenesis is not clear.
【Key words】Dyschromatosis Symm etrica Hereditary; DSRAD gene; Mutation; Review
遗传性对称性色素异常症（DSH）是一种少见的常染色体显性遗传的皮肤病。文献复习发现东亚地区对该病的报道较多，而欧美地区较少报道。1929年Toyama I[1]首次对DSH进行了报道，并描述了该病的临床表现。其主要临床表现为四肢外侧对称性色素减退或沉着，以手足背部表现突出；其次面部可出现类似雀斑的表现，同时可出现色素减退，但部分患者可不出现色素减退，日晒后皮损部位色素沉着尤为严重。Oyama M等[2]报道约有73%DSH发病于6岁以前。2003年以前尚未确定该病的遗传定位，2003年高敏等[3]首次将该病遗传基因定位与1号染色体。此后的研究多集中在遗传基因突变方式和突变部位的研究，本文将对该病的认识过程做如下综述：
1 2003年以前对DSH的认识
2致病基因定位与DSRAD基因
参考文献
[1] Toyama I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol 1929; 27: 95–6 (in Japanese).
[2] Oyama M, Shimizu H, Ohata Y. et a1．Dyschromatosis symmetrica hereditaria(reticulate acropigmentation of Dohi): report of a Japanese family with the condi．tion and a literature review of 185 cases[J]．Br t, Dermatol, 1999, 140(3): 491-6．
[3] 高敏，张学军，李明，等．全基因组扫描定位遗传性对称性色素异常症易感区域[J]．中华皮肤科杂志，2003，36（12）：675-678．
[4] Matsumoto S. Leucopathia punctata et reticularis symmetrica. Acta Dematol 1923; 2: 191–7 (in Japanese).
[5] Komaya G. Symmetrische Pigmentanomalie der Extremita¨ten.
Arch Dermatol Syphilol 1924; 147: 389–93 (in German).
[6] Siemens HW. Acromelanosis albo-punctata. Dermatologica 1964;128: 86–7.
[7] Costa OC. Leucopathie syme´trique progressive des extre´mite´s. Ann Dermatol Syphiligr 1951; 78: 452–4 (in French).
[8] Ohtoshi E, Matsumura Y, Nishigori C,et al. Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum. Br J Dermatol. 2001;144(1):162-8.
[9] Patrizi A, Manneschi V, Pini A, Baioni E, et al. Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report. Acta Derm Venereol. 1994 ;74(2):135-7.
[10] Kono M, Miyamura Y, Matsunaga J, et al. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. J Dermatol Sci. 2000 ;22(2):88-95.
[11] Xing QH, Wang MT, Chen XD, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet. 2003 Aug;73(2):377-82.
[12] Zhang XJ, Gao M, Li M, et al. Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11- 1q21. J Invest Dermatol, 2003, 120: 776-80.
[13] He PP, He CD, Cui Y, et al. Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4- cM region at 1q21- 22 and a literature review of 136 cases reported in China. Br J Dermatol,2004, 150: 633-9.
[14] Miyamura Y, Suzuki T, Kono M,et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003;73(3):693-9.
[15] KimU，WangY，Sanford T,et al.Molecular cloning of cDNA for double- stranded RNA adenosine deaminase.a candidate enzyme for nuelear RNA editing. Proc Narl Acad Sei USA，1994，91(24):11457-61.
[16] O'Connell MA, Krause S, Higuchi M, Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase. Mol Cell Biol. 1995;15(3):1389-97.
[17] Yang JH, Luo X, Nie Y,et al. Widespread inosine-containing mRNA in lymphocytes regulated by ADAR1 in response to inflammation. Immunology. 2003 ;109(1):15-23.
[18] Keegan LP, Gallo A, O'Connell MA. The many roles of an RNA editor. Nat Rev Genet. 2001;2(11):869-78.
[19] Higuchi M, Maas S, Single FN,et al. Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the R
