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    题名: 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
    贡献者: Northwestern University Medical School
    日期: 2009-12-16
    上传时间: 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
    显示于类别:[外國語文學系] 會議論文

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