| 原发性皮肤淀粉样变一家系OSMR基因突变检测 |
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| 引用本文： | 张士发,邢雪莎,刘双,赵丽萍,王艳红,罗阳. 原发性皮肤淀粉样变一家系OSMR基因突变检测[J]. 中国麻风皮肤病杂志, 2018, 34(2): 70-73 |
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| 作者姓名： | 张士发 邢雪莎 刘双 赵丽萍 王艳红 罗阳 |
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| 作者单位： | 1 沈阳军区总医院皮肤科，沈阳，1100162中国医科大学医学基因组学教研室，教育部医学细胞生物学重点实验室，沈阳110001 |
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| 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。
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| 关 键 词： | 原发性皮肤淀粉样变病 抑瘤素M受体 基因突变 |
Detection of OSMR gene mutation in a family with primary cutaneous amyloidosis |
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| ZHANG Shifa,XING Xuesha,LIU Shuang,ZHAO Liping,WANG Yanhong,LUO Yang.. Detection of OSMR gene mutation in a family with primary cutaneous amyloidosis[J]. China Journal of Leprosy and Skin Diseases, 2018, 34(2): 70-73 |
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| Authors: | ZHANG Shifa XING Xuesha LIU Shuang ZHAO Liping WANG Yanhong LUO Yang. |
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| Affiliation: | 1.Department of Dermatology,General Hospital of Shenyang Millitary Region,Shenyang 110016, China; 2.Department of genomics, China medical university，Key laboratory of medical cell biology of the ministry of education，Shenyang 110122, China |
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| Abstract: | 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.2081C>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. |
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| Keywords: | primary cutaneous amyloidosis oncostatin M receptor gene mutaotion |
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