Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 林顺潮教授 (外科学系) |
| 包立怡教授 (药剂学院) |
| 彭智培教授 (眼科及视觉科学学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1515/CCLM.2000.118 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/10WOS source URL
其它资讯
摘要Disease genes may be identified through functional, positional, and candidate gene approaches. Although extensive and often labor-intensive studies such as family linkage analysis, functional investigation of gene products and genome database searches are usually involved, thousands of human disease genes, especially for monogenic diseases with Mendelian transmission, have been identified. However, in diseases caused by more than one gene, or by a combination of genetic and environmental factors, identification of the genes is even more difficult. Common examples include atherosclerosis, cancer, Alzheimer's disease, asthma, diabetes, glaucoma, and age-related macular degeneration. There have been conflicting reports on the roles of associated genes. Even with population-based case-control studies and new statistical methods such as the sib-ship disequilibrium test and the discordant alleles test, there is no agreement on whether alpha (2)-macroglobulin (A2M) is a gene for Alzheimer's disease. Another example is the inconsistent association between age-related macular degeneration and ATP-binding cassette transporter (ABCR). Ethnic variation causes further complications. In our investigation of LDL-receptor variants in familial hypercholesterolemia, and the trabecular meshwork inducible glucocorticoid response protein, or myocillin (TIGR-MYOC) mutation pattern in primary open angle glaucoma, we did find dissimilar results in Chinese compared to Caucasians. New information from the Human Genome Project and advancements in technologies will aid the search for and confirm identification of disease genes despite such challenges.
着者Pang CP, Baum L, Lam DSC
会议名称2nd Joint IFCC-Roche Diagnostics Conference
会议开始日16.04.2000
会议完结日19.04.2000
会议地点KYOTO
期刊名称Clinical Chemistry and Laboratory Medicine
出版年份2000
月份9
日期1
卷号38
期次9
出版社WALTER DE GRUYTER & CO
页次819 - 825
国际标準期刊号1434-6621
电子国际标準期刊号1437-4331
语言英式英语
关键词candidate gene; gene hunting; multi-functional diseases
Web of Science 学科类别Medical Laboratory Technology; MEDICAL LABORATORY TECHNOLOGY
