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孤独症的基因研究突破
http://www.100md.com 2000年10月9日
     Autism hope from genetic breakthrough

    Genetics research holds out hope for autism treatment

    Research is paving the way for genetic testing for autism and possible treatments for children with the condition.

    Latest work presented at the American Soceity of Human Genetics conference suggests the chances of a child having autism depends on which parent passes on a defective gene.
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    Scientists have believed for some time that autism has genetic origins, but now indications are that a particular process known as genetic imprinting is at work.

    Scientists at Duke University Medical Center have concluded that fathers can carry the autism gene on chromosome 7 while mothers carry the faulty material on chromosome 15.

    Usually genes are either dominant or recessive, with dominant ones determining whether a child inherits particular characteristics.
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    Genetic imprinting means the particular parent carrying a gene will determine whether or not the characteristics are passed on.

    Further research crucial

    Allison Ashley-Koch, post-doctoral fellow at Duke's Center for Human Genetics, said : "Once we better understand the genetic factors involved in autism, genetic testing can theoretically be offered to families at risk.

    "In addition, identification of such genes will pave the way for development of therapies to improve the quality of life of these children."
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    UK researchers have suspected for some time that there was more than one gene linked to autism and see further genetic research as crucial to understanding and managing the condition.

    Centres in Oxford, Cambridge and Salisbury are working towards producing a full genetic picture of the condition which would help with diagnosis and family planning decisions.

    Professor Pat Jacobs from the Wessex Regional Genetics Lab in Salisbury is one of the scientitsts who has been studying the link with chromosome 15.
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    "We know there are problems with gene duplications in one region of chromosome 15 - on the maternal side we have seen this linked to speech, language and developmental problems and, in extreme case, austistic features," she told BBC News Online.

    Autism includes a whole spectrum of problems with communication and social behaviour and affects between two and 10 in every 10,000 people.

    Autistic children have difficulty socialising
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    Specialists believe that people suffering from the condition have problems processing information format he surrounding environment.

    However, there are sometimes delays in diagnosis, complicated by the fact that the symptoms can vary enormously.

    The National Autistic Society has welcomed the recent breakthroughs.

    A spokesman said "This adds to the whole host of other work going on into genetic factors and autism. We eagerly await more information about this research.", 百拇医药