原发性皮肤淀粉样变一家系OSMR基因突变研究
|
摘要
目的:明确原发性皮肤淀粉样变(PCA)的致病基因抑瘤素M受体(OSMR)突变情况。方法:提取一PCA家系3例患者及22名正常成员的外周血DNA,应用PCR扩增OSMR基因外显子,并对产物进行测序。结果:该家系3例患者OSMR基因的第15外显子中均检测出c.2081C>T(p.Pro694Leu)错义突变,而家系内正常人未见该突变。结论:该家系患者发病可能与OSMR基因第15外显子突变有关。
Objective: To detect the pathogenetic gene mutation of OSMR in primary cutaneous amyloidosis( PCA). Methods: Genomic DNA was extracted from peripheral blood of 3 patients and 23 normal familial members. The exons 15 of OSMR gene were amplifyed by PCR and the products were directly sequenced. Results: Missense mutation( c.2081 C>T) of OSMR gene was identified in three patients,which was not found in the healthy family members.Conclusion: In this pedigree,the missense mutation of exon 15 of OSMR gene is related with the morbidity of PCA.
Objective: To detect the pathogenetic gene mutation of OSMR in primary cutaneous amyloidosis( PCA). Methods: Genomic DNA was extracted from peripheral blood of 3 patients and 23 normal familial members. The exons 15 of OSMR gene were amplifyed by PCR and the products were directly sequenced. Results: Missense mutation( c.2081 C>T) of OSMR gene was identified in three patients,which was not found in the healthy family members.Conclusion: In this pedigree,the missense mutation of exon 15 of OSMR gene is related with the morbidity of PCA.
引文
[1]Arita K,South AP,Hans-Filho G,et al.Oncostatin M receptor-βmutations underlie familial primary localized cutaneous amyloidosis[J].Am J Hum Genet,2008,82(1):73-80.
[2]Lin MW,Lee DD,Liu TT,et al.Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis[J].Eur J Hum Genet,2010,18(1):26-32.
[3]颜永祥,颜洁,秦保玲.皮肤淀粉样变性三例家系调查[J].中华皮肤科杂志,2008,41(2):130-130.
[4]戴迅毅,赖美玲,杨莉佳,等.原发性皮肤淀粉样变一家系五例[J].中华医学遗传学杂志,2012,29(2):245-245.
[5]Arita K,South AP,Hans-Filho G,et al.Oncostatin M receptor-βmutations underlie familial primary localized cutaneous amyloidosis[J].Am J Hum Genet,2008,82(1):73-80.
[6]Tanaka A,Arita K,Lai-Cheong JE,et al.New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis[J].Br J Dermatol,2009,161(6):1217-1224.
[7]Wang W,Li L,Huang E,et al.A new c.1845A→T of oncostatin M receptor-βmutation and slightly enhanced oncostatin M receptor-βexpression in a Chinese family with primary localized cutaneous amyloidosis[J].Eur J Dermatol,2012,22(1):29-33.
[8]Heinrich P,Behrmann I,Haan S,et al.Principles of interleukin(IL)-6-type cytokine signalling and its regulation[J].Biochem J,2003,374(Pt 1):1-20.
[9]林杨杨,杨文林,杨健,等.色素异常性皮肤淀粉样变的OSMR及IL31RA基因突变研究[J].皮肤性病诊疗学杂志,2012,19(2):69-73.
[10]Sakuma TH,Hans-Filho G,Arita K,et al.Familial primary localized cutaneous amyloidosis in Brazil[J].Arch Dermatol,2009,145(6):695.
[2]Lin MW,Lee DD,Liu TT,et al.Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis[J].Eur J Hum Genet,2010,18(1):26-32.
[3]颜永祥,颜洁,秦保玲.皮肤淀粉样变性三例家系调查[J].中华皮肤科杂志,2008,41(2):130-130.
[4]戴迅毅,赖美玲,杨莉佳,等.原发性皮肤淀粉样变一家系五例[J].中华医学遗传学杂志,2012,29(2):245-245.
[5]Arita K,South AP,Hans-Filho G,et al.Oncostatin M receptor-βmutations underlie familial primary localized cutaneous amyloidosis[J].Am J Hum Genet,2008,82(1):73-80.
[6]Tanaka A,Arita K,Lai-Cheong JE,et al.New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis[J].Br J Dermatol,2009,161(6):1217-1224.
[7]Wang W,Li L,Huang E,et al.A new c.1845A→T of oncostatin M receptor-βmutation and slightly enhanced oncostatin M receptor-βexpression in a Chinese family with primary localized cutaneous amyloidosis[J].Eur J Dermatol,2012,22(1):29-33.
[8]Heinrich P,Behrmann I,Haan S,et al.Principles of interleukin(IL)-6-type cytokine signalling and its regulation[J].Biochem J,2003,374(Pt 1):1-20.
[9]林杨杨,杨文林,杨健,等.色素异常性皮肤淀粉样变的OSMR及IL31RA基因突变研究[J].皮肤性病诊疗学杂志,2012,19(2):69-73.
[10]Sakuma TH,Hans-Filho G,Arita K,et al.Familial primary localized cutaneous amyloidosis in Brazil[J].Arch Dermatol,2009,145(6):695.