The Search for a Rare Genetic Disease:How International Collaboration in Laboratory and Field Research Solved a Mystery and Advanced Scientific Knowledge

ASIA unversity > 人文社會學院 > 外國語文學系 > 會議論文 > Item 310904400/7060

請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/7060

題名:	The Search for a Rare Genetic Disease:How International Collaboration in Laboratory and Field Research Solved a Mystery and Advanced Scientific Knowledge
作者:	Gary Lee Robertson
貢獻者:	Northwestern University Medical School
日期:	2009-12-16
上傳時間:	2010-01-08
出版者:	亞洲大學外國語文學系
摘要:	The Search for a Rare Genetic Disease: International Collaboration in Laboratory and Field Research. Gary L. Robertson, MD. Northwestern University, Chicago, IL USA Since genetic variation is responsible for individual differences in many physical and mental traits, it must also be responsible in part for cultural diversity. This influence may be investigated by modern methods of genetic analysis. Some principles of this approach are illustrated by a recent project to determine the cause and genetic basis of an apparently unique disease discovered in a Swedish family over 60 years ago. The disease, known as diabetes insipidus (DI), is characterized by the production of abnormally large volumes of urine. In this family, it affects only males and was thought to be due to a hormone deficiency. However, the pattern of transmission is like another type of DI known to be caused by hormone resistance. The project aimed to resolve this uncertainty by finding the descendants of the family in Sweden and testing them with modern methods of clinical diagnosis and genetic analysis. After a long search, 15 descendants were located and tested. The males all turned out to have the type of DI caused by hormone resistance and the cause was traced to a tiny mutation in the gene on the X chromosome that makes the hormone receptor. Other small mutations in this gene cause the same type of DI in the males of many other families worldwide. Thus, the genetic variation responsible for a large difference in a biological trait can be very small, extremely diverse and widely distributed.
關聯:	2009第三屆『全球化』與華語文敘述國際學術研討會 2009-12-16~19:5
顯示於類別:	[外國語文學系] 會議論文

文件中的檔案:

檔案	描述	大小	格式	瀏覽次數
310904400-7060 .doc		31Kb	Microsoft Word	413	檢視/開啟

在ASIAIR中所有的資料項目都受到原著作權保護.

資料載入中.....