[1]游晶玉,罗飞宏.单基因糖尿病的研究进展[J].国际内分泌代谢杂志,2017,37(04):266-269.
 You Jingyu,Luo Feihong..Recent progress of monogenic diabetes[J].International Journal of Endocrinology and Metabolism,2017,37(04):266-269.
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单基因糖尿病的研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年04期
页码:
266-269
栏目:
综述
出版日期:
2017-07-20

文章信息/Info

Title:
Recent progress of monogenic diabetes
作者:
游晶玉罗飞宏
201102 上海,复旦大学附属儿科医院内分泌遗传代谢科
Author(s):
You Jingyu Luo Feihong.
Department of Pediatric Endocrinology and Inborn Metabolic Diseases, Children's Hospital of Fudan University, Shanghai 201102, China
关键词:
单基因糖尿病 基因突变 分子遗传学 遗传药理学
Keywords:
Monogenic diabetes Genemutation Molecular genetics Pharmacogenetics
文献标志码:
A
摘要:
单基因糖尿病在儿童糖尿病中约占1%~4%,大部分易被误诊为1型或2型糖尿病。目前已发现40余种单基因糖尿病的致病基因,其通过复杂的转录因子网络调控等途径影响胰腺的发育、分化、功能和形态的完整性等。单基因糖尿病的临床表型、遗传方式不尽相同,其确诊依靠基因诊断,基因诊断明确后可以针对性的开展个体化治疗和遗传咨询。
Abstract:
Monogenic diabetes accounts for 1%- 4% in pediatric diabetes. However,the majority of monogenic diabetes is often misdiagnosed as type 1 or type 2 diabetes mellitus. Currently, more than 40 related genes have been found widely covering different aspects of pancreas development, differentiation, normal morphology and function through complex transcription factor regulating network and so on. Monogenic diabetes can be precisely diagnosed by genetic tests which may potentially provide evidence for personalized therapy and genetic counseling.

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备注/Memo

备注/Memo:
通信作者:罗飞宏,Email: luo_fh@163.com
更新日期/Last Update: 2017-07-30