遗传性对称性色素异常症一家系ADAR1基因突变检测
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摘要
目的:检测1例中国汉族遗传性对称性色素异常症家系ADAR1基因突变情况。方法:收集该家系内的2例患者及2名表型正常者的临床资料和血样,提取外周血基因组DNA,PCR扩增后进行DNA测序。结果:该家系2例患者均存在ADAR1基因第13号外显子c.3232C>T突变(p.R1078C),而在该家系内表型正常的个体以及100名正常对照中均未发现该突变。结论:该DSH家系内ADAR1基因c.3232C>T突变可能与DSH发病有关。
Objective: To detect the mutation of ADAR1 gene in a Chinese Han family with dyschromatosis symmetrica hereditaria( DSH). Methods: Clinical data and blood samples of the family with DSH were collected. 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 ADAR1 gene were amplified by PCR and the product was purified and directly sequenced. Results: A missense mutation of c. 3232C > T( p. R1078C) in the ADAR1 protein was found in two patients,which was not detected in the unaffected family members and healthy controls. Conclusion: A missense mutation of c.3232C>T in the ADAR1 gene may result in the disease of DSH in this family.
Objective: To detect the mutation of ADAR1 gene in a Chinese Han family with dyschromatosis symmetrica hereditaria( DSH). Methods: Clinical data and blood samples of the family with DSH were collected. 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 ADAR1 gene were amplified by PCR and the product was purified and directly sequenced. Results: A missense mutation of c. 3232C > T( p. R1078C) in the ADAR1 protein was found in two patients,which was not detected in the unaffected family members and healthy controls. Conclusion: A missense mutation of c.3232C>T in the ADAR1 gene may result in the disease of DSH in this family.
引文
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[14]Li CR,Xu XL,Sun XJ,et al.Two new mutations of the A-DAR1 gene associated with dyschromatosis symmetrica hereditaria[J].Arch Dermatol Res,2010,302(6):477-480.
[15]Suzuki N,Suzuki T,Inagaki K,et a1.Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria[J].J Invest Dermatol,2007,127:309-311.
[16]李聪颖,沈征宇,汪蓓青,等.HaCaT细胞ADAR1基因沉默对Wnt11表达和A375细胞酪氨酸酶活性的影响[J].中华皮肤科杂志,2013,46(12):877-880.
[17]Rabbani P,Takeo M,Chou WC,et al.Coordinated activation of Wnt in epithelial and melanocyte stem cells initiates pigmented hair regeneration[J].Cell,2011,145(6):941-955.
[18]Liu Q,Wang Z,Wu Y,et al.Five novel mutations in the A-DAR1 gene associated with dyschromatosis symmetrica hereditaria[J].BMC Med Genet,2014,5(1):1-17.
[2]Zhang XJ,Gao M,Li M,et al.Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11~1q21[J].J Invest Dermatol,2003,120:776-780.
[3]Miyamura Y,Suzuki T,Kono M,et al.Mutations of the RNA-specific adenosine deaminase gene(DSRAD)are involved in dyschromatosis symmetrica hereditaria[J].Am J Hum Genet,2003,73:693-699.
[4]Fritz J,Strehblow A,Taschner A,et al.RNA-regulated interaction of transportin-1 and exportin-5 with the double-stranded RNA-binding domin regulates nucleocytoplasmic shuttling of ADAR1[J].Mol Cell Biol,2009,29(6):1487-1497.
[5]Li M,Yang L,Li C,et al.Mutational spectrum of the ADAR1gene in dyschromatosis symmetrica hereditaria[J].Arch Dermatol Res,2010,302(6):469-476.
[6]Murata I,Hozumi Y,Kawaguchi M,et al.Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria[J].J Dermatol Sci,2009,53(1):76-77.
[7]Zhang F,Liu H,Jiang D,et al.Six novel mutations of the A-DAR1 gene in Chinse patients with dyschromatosis symmetrica hereditaria[J].J Dermatol Sci,2008,50(2):109-114.
[8]刘红,蒋德科,田洪清,等.一个遗传性对称性色素异常症家系DSRAD基因剪切位点突变的鉴定[J].中华皮肤科杂志,2008,41(3):163-165.
[9]Wang XP,Wang WJ,Wang JM,et al.Four novel and two recurrent mutations of the ADAR1 gene in Chinse patients with dyschromatosis symmetrica hereditaria[J].J Dermatol Sci,2010,58(3):217-218.
[10]Bassi E,Roujeau JC,Grimbert P,et al.Grover's disease in a renal transplant patient,after hemodialysis renewal[J].GItal Dermatol Venereol,2012,147(2):222-223.
[11]Kawaguchi M,Hayashi M,Murata I,et al.Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria[J].J Dermatol Sci,2012,66(3):244-245.
[12]Murata I,Hayashi M,Hozumi Y,et al.Mutation analyses of patients with dyschromatosis symmetrica hereditaria:five novel mutations of the ADAR1 gene[J].J Dermatol Sci,2010,58(3):218-220.
[13]李敏,王丽君,张彩娥,等.一个遗传性对称性色素异常症家系DSRAD基因突变分析[J].第四军医大学学报,2008,29(4):366-368.
[14]Li CR,Xu XL,Sun XJ,et al.Two new mutations of the A-DAR1 gene associated with dyschromatosis symmetrica hereditaria[J].Arch Dermatol Res,2010,302(6):477-480.
[15]Suzuki N,Suzuki T,Inagaki K,et a1.Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria[J].J Invest Dermatol,2007,127:309-311.
[16]李聪颖,沈征宇,汪蓓青,等.HaCaT细胞ADAR1基因沉默对Wnt11表达和A375细胞酪氨酸酶活性的影响[J].中华皮肤科杂志,2013,46(12):877-880.
[17]Rabbani P,Takeo M,Chou WC,et al.Coordinated activation of Wnt in epithelial and melanocyte stem cells initiates pigmented hair regeneration[J].Cell,2011,145(6):941-955.
[18]Liu Q,Wang Z,Wu Y,et al.Five novel mutations in the A-DAR1 gene associated with dyschromatosis symmetrica hereditaria[J].BMC Med Genet,2014,5(1):1-17.