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科技导报
|专题论文
2016
, 34
(20) :
56
-63
准确的基因变异解读和遗传咨询在罕见病精准医学中的重要作用
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陆国辉1,2 , 许艺明1 , 张巍1,3
作者信息
1. 广州嘉检医学检测有限公司, 广州 510300;
作者简介:
陆国辉,教授,研究方向为产前遗传基因和肿瘤遗传基因检测诊断和遗传咨询,电子信箱:gary.lu@amcarelab.com
Importance of accurate variant interpretation and genetic counseling in precision medicine for rare diseases
LU Guohui1,2 , XU Yiming1 , ZHANG Wei1,3
Affiliations
1. AmCare Genomics Laboratory, Guangzhou 510300, China;
出版时间: 2016-10-28
doi: 10.3981/j.issn.1000-7857.2016.20.009
文章导航
精准医学本身是希望运用新型客观的诊断方法从个体病人基因组数据库中鉴定致病突变，常应用于遗传病重要组成部分的罕见病诊断中，更是用于出生缺陷的预防方面。与人类疾病相关的致病突变包括蛋白编码序列变异、非编码序列变异和拷贝数变异等多种类型，而与人类疾病相关的基因突变在许多时候往往是新发的或是非常罕见的。因此，准确的基因变异解读和遗传咨询在罕见病精准医学中的作用愈加重要而更具挑战性。本文阐释了基因变异解读和遗传咨询的内涵，同时结合部分案例综述了这两方面在罕见病精准医疗中的重要作用。
The practice of precision medicine is quickly accepted and popularized as a new frontier for genetic disease diagnosis and management, particularly in diagnosing rare diseases, especially, genetic diseases and birth defects.The variety of mutation types associated with rare diseases include the protein coding sequence variations, the noncoding variations or the copy number variations, some of which are rare or de novo, in a broad mutation spectrum. Based on various case analyses, this paper shows the challenge and the importance of an accurate genetic variant interpretation and the standard follow-up genetic counseling service in providing the precision medicine for patients of rare diseases.
precision medicine
/
rare disease
/
variant interpretation
/
genetic counseling
陆国辉, 许艺明, 张巍.
准确的基因变异解读和遗传咨询在罕见病精准医学中的重要作用.
科技导报,
2016
, 34
(20)
: 56
-63
.
DOI: 10.3981/j.issn.1000-7857.2016.20.009
LU Guohui, XU Yiming, ZHANG Wei.
Importance of accurate variant interpretation and genetic counseling in precision medicine for rare diseases[J].
Science & Technology Review ,
2016
, 34
(20)
: 56
-63
.
DOI: 10.3981/j.issn.1000-7857.2016.20.009
2016年第34卷第20期
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文章信息
doi: 10.3981/j.issn.1000-7857.2016.20.009
接收时间：2016-09-24
首发时间：2016-11-05
出版时间：2016-10-28
收稿日期：2016-09-24
修回日期：2016-10-11
https://castjournals.cast.org.cn/joweb/kjdb/CN/10.3981/j.issn.1000-7857.2016.20.009
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2种不同金属材料的力学参数
科 属数 种数 占总种数比例 属 种数 占总种数比例 鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78 小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39 多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39 红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87 小菇属 Mycena 11 5.26 光柄菇属 Pluteus 5 2.39 红菇属 Russula 17 8.13 栓菌属 Trametes 5 2.39
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