| Status | 已發表Published |
| Applying next-generation DNA sequencing technology for genetic disease study | |
Wang, S. M. 
| |
| 2011-10-01 | |
| Source Publication | ＪＯＵＲＮＡＬＯＦＳＨＡＮＤＯＮＧＵＮＩＶＥＲＳＩＴＹ（ＨＥＡＬＴＨＳＣＩＥＮＣＥＳ）
 |
| ISSN | 1671-7554 |
| Pages | 43-47 |
| Abstract | Genetic diseases are one of the top classes for human diseases. Several thousand types of human genetic diseases have been identified. Most of the family may contain genetic disorders, and at least 10 percent of all adults contain genetic defects (1, http://www.britannica.com/EBchecked/topic/228874/human-genetic-disease). In China, over 1 million new born babies have genetic birth deficiency annually (http://www.dcmst.org.cn/bencandy.php?fid=14&id=273). While the individuals with genetic diseases passed away before reaching the reproduction age will eliminate the diseases from the human population, the individuals reaching the reproduction age will transmit the diseases to the new generation, therefore, the diseases will remain in the human population. China has the largest human population in the world and Shandong is one of the most populated provinces in China. In the foreseeable future, most of the genetic diseases will not be curable. Preventing genetic diseases is certainly a lasting task to improve the quality of life and decrease the burden of the society and the affected families. Currently the most effective way to control genetic diseases is through early diagnosis for the causes, or the mutated genes responsible or associated to the diseases. This has been a constant attempt in human genetic study since the Mendelian genetics was established. The conventional approach in human genetic disease study is through linkage analysis that uses the specific genetic markers to narrow down the mutated region in the disease genome, and then uses positional cloning method to isolate the mutated gene. Many mutated disease genes have been identified by using the approach, as best exemplified by the identification of breast cancer gene BRCA1 and BRCA2 mutations (2-4) used currently in clinical diagnosis and prognosis of familial breast cancer. However, the conventional approaches have limitations, e.g., it is difficult to use linkage approach to identify the complex genetic mutations and position cloning is rather labor intensive, time consuming and inefficient. For the thousands of human genetic diseases, only small portion have known genetic mutations, e.g., the BRCA1 and BRCA2 mutations account for only about 8% of the familial breast cancers (5). The majority of genetic diseases have no clues for the causes. Therefore, new approaches are urgently needed for comprehensive detection of mutated genes in human genetic diseases. |
| Keyword | NGS genetics diseases |
| Language | 英語English |
| The Source to Article | PB_Publication |
| PUB ID | 43547 |
| Document Type | Journal article |
| Collection | DEPARTMENT OF PUBLIC HEALTH AND MEDICINAL ADMINISTRATION |
| Corresponding Author | Wang, S. M. |
| Recommended Citation GB/T 7714 | Wang, S. M.. Applying next-generation DNA sequencing technology for genetic disease study[J]. ＪＯＵＲＮＡＬＯＦＳＨＡＮＤＯＮＧＵＮＩＶＥＲＳＩＴＹ（ＨＥＡＬＴＨＳＣＩＥＮＣＥＳ）, 2011, 43-47. |
| APA | Wang, S. M..(2011). Applying next-generation DNA sequencing technology for genetic disease study. ＪＯＵＲＮＡＬＯＦＳＨＡＮＤＯＮＧＵＮＩＶＥＲＳＩＴＹ（ＨＥＡＬＴＨＳＣＩＥＮＣＥＳ）, 43-47. |
| MLA | Wang, S. M.."Applying next-generation DNA sequencing technology for genetic disease study".ＪＯＵＲＮＡＬＯＦＳＨＡＮＤＯＮＧＵＮＩＶＥＲＳＩＴＹ（ＨＥＡＬＴＨＳＣＩＥＮＣＥＳ） (2011):43-47. |
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