| Brugada综合征亚型相关致病基因的研究进展 |
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| 引用本文： | 谭姣,程宁,白亚娜,胡晓斌. Brugada综合征亚型相关致病基因的研究进展[J]. 中国优生与遗传杂志, 2011, 0(2): 15-17,80 |
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| 作者姓名： | 谭姣 程宁 白亚娜 胡晓斌 |
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| 作者单位： | 兰州大学生殖健康与出生缺陷研究中心;兰州大学公共卫生学院流行病与卫生统计学研究所; |
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| 摘 要： | Brugada综合征是常染色体显性遗传病,全球发病率约万分之五.目前发现9种致病基因与该病存在关联.在发现的约100个基因突变位点中,96个基因突变位于SCN5A基因,这些突变可以解释20%-25%的BrS病因.本综述依据目前研究进展分别将Brugada综合征9种亚型致病基因介绍如下.
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| 关 键 词： | BrS综合征 致病基因 突变 |
The research progress on genetic mutations Associated with subtype of Brugada syndrome |
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| TAN Jiao,CHENG Ning,BAI Ya-na,HU Xiao-bin.. The research progress on genetic mutations Associated with subtype of Brugada syndrome[J]. Chinese Journal of Birth Health & Heredity, 2011, 0(2): 15-17,80 |
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| Authors: | TAN Jiao CHENG Ning BAI Ya-na HU Xiao-bin. |
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| Affiliation: | TAN Jiao1,CHENG Ning1,BAI Ya-na1,2,HU Xiao-bin2.(Center of Reproductive Health and Birth Defects,Lanzhou University,Lanzhou,730000 Gansu,China,2.Institute of Epidemiology and Statistics,Public Health School,730000,Gansu,China) |
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| Abstract: | Brugada syndrome（BrS） is predominantly exhibits an autosomal dominant pattern of inheritance and incomplete penetrance with an average prevalence of 5∶ 10000 worldwide.Currently,9 genes have been found associated with BrS,96 mutations in more than 100 mutations of these genes are attributed to SCN5A,which could explain 20%-25% cause of BrS.According to the latest research reports,this article introduces these 9 genes respectively as followed. |
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| Keywords: | Brugada syndrome Pathogenic gene Mutations |
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