摘要
目的罕见病种类繁多,在已经发表的文献中有近8000种疾病被称作罕见病。而其分类研究甚少,在已经报道的罕见病中,只有495种被国际疾病分类(International Classication of Diseases,ICD)编码分类。orphanet是罕见病的分类与编码研究的先行者,本文首先回顾其目前罕见病的分类情况;其次,统计罕见病在CNKI报道的学科分类,根据中国医生的分类习惯,展示罕见病的分类概况;最后由于大部分的罕见病属于遗传病,本研究统计了罕见病相关基因在染色体的位置,建立一种罕见病与染色体对应的分类模式。方法对orphanet分享的疾病分类及编码,进行数据整理与解析。依托CNKI数据库,整理罕见病的相关文献,并对疾病的所属学科进行统计。依据罕见病与突变基因的对应关系,把基因突变的位点定位到相应的染色体以及长短臂上,建立罕见疾病在染色体上的分布。结果回顾总结了orphanet目前的罕见病分类情况。建立了1300多种罕见病以学科分类为依托的科室分类纬度。匹配了5614种罕见病与其相关的6316个基因突变位点,统计罕见病相关基因在23对染色体以及线粒体的分布,最终建立罕见疾病在23对染色体以及线粒体的分布,在染色体纬度对罕见病进行分类。结论本研究通过罕见病的科室分类与突变基因染色体位置两个纬度对罕见病进行初步分类。
Objective： there are many different rare diseases, nearly 8000 kinds of disease reported in the published literature. Only 495 species were coding by International Classication of Diseases, ICD. Orphanet is the pioneer of rare disease classification.The paper firstly reviews the current research in rare disease classification; Second, do the beginning classification based the Chinese doctor habits. Most rare disease belong to genetic disorders, Finally, establish a rare disease classification model based Genes in the chromosome location. Methods： Data from orphanet database, CNKI database and other gene database, collection sorting,parsing and statistics. Results： the research summarizes orphanet classification in rare diseases. Based CNKI database, Set up 1348 kinds of rare diseases classification based report of discipline and Department of the hospital. Matching the 5614 kinds of rare diseases associated with 6316 gene mutations. and statistics rare disease related gene in 23 pairs of chromosomes. eventually establish the rare disease in distribution of mitochondria and 23 pairs of chromosomes, which showed a rare diseases classification in the chromosome latitude. Conclusion： The study finished a preliminary classification of rare diseases in two latitude, reported department and gene mutation in chromosome position.
作者
谢冰洁
蒋立新
徐江平
Xie Bingjie;Jiang Lixin;Xu Jiangping(Southern medical university, Guangzhou, Guangdong, 510515;Staidson Biopharmaceuticals Co.,Ltd, Beijing 100176, PR China;Beijing JoinnPals institute of rare diseases, Beo＇ing 100176)
出处
《生命科学仪器》
2018年第2期52-57,62,共7页
Life Science Instruments
基金
广东省科技计划(2015B090903067)
广东省科技计划项目(No.2012B050500005)
关键词
罕见病
基因
染色体
分类
编码
Rare disease
Gene
Chromosome
Classification
Coding
