新验血方法筛检遗传疾病

choi

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鲍曼, 新验血方法筛检遗传疾病. VOA Chinese, Jan. 14, 2011.
http://www.voanews.com/chinese/news/20110128-PRECONCEPTION-TEST-114819684.html
("密苏里州堪萨斯市儿童慈爱医院基因组中心的研究负责人斯蒂芬·金斯默尔说，研究人员用这种测试方法，对100名没有亲属关系的人的DNA进行筛检。他们发现，每一个人的DNA中都有两至三种严重的突变基因")

Note:
(a) That is "Stephen Kingsmore of the Center for Genomics at Children's Mercy Hospital in Kansas City, Missouri."

His resume in National Center for Genome Resources (NCGR) at Santa Fe, New Mexico.
http://www.ncgr.org/index.php?option=com_content&view=article&catid=19%3Abiographies&id=15%3Astephen-f-kingsmore-president&Itemid=37

(b) The above is translated from

Jessica Berman, New Test Warns Couples of Genetic Illnesses. VOA, Jan. 14, 2011.
http://www.voanews.com/english/news/health/New-Test-Warns-Couples-of-Genetic-Illnesses---113633454.html

(c)  A similar report:

Nell Greenfieldboyce, New Genetic Test Screens Would-Be Parents. National Public Radio (NPR), Jan
http://www.npr.org/2011/01/13/132908098/new-gene-test-screens-nearly-500-childhood-diseases

Quote:

"one devastating childhood disease, Tay-Sachs, has been virtually eliminated in people with Eastern European Jewish ancestry.

"This week, in the journal Science Translational Medicine, Kingsmore's team describes that test. For less than $400, it can check a person's DNA for all mutations in genes related to nearly 448 severe childhood diseases.

My comment:  Bell CJ et al, Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing. Sci. Transl. Med. 3, 65ra4 (2011).
http://stm.sciencemag.org/content/3/65/65ra4.abstract
(abstract)

I have no access to the full text, so am clueless how the experiment, including sampling, was done.





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