• Zhonghua yi xue za zhi · Aug 1994

    [Molecular screening and prenatal diagnosis of the deletional alpha-thalassemia by polymerase chain reaction amplification].

    • X M Xu, X H Cai, and J Li.
    • Department of Biochemistry, First Military Medical University, Guangzhou.
    • Zhonghua Yi Xue Za Zhi. 1994 Aug 1; 74 (8): 495-7, 520.

    AbstractFor the genetic counselling, 8,432 blood samples from Chinese couples were screened for detecting alpha-thalassemia in Guangzhou city. The positive diagnosis of 646 (7.66%) alpha-thalassemia patients was made. One hundred DNA random samples from the above positive cases were collected and were analysed by using polymerase chain reaction (PCR) to determine the genotype of alpha-thalassemia of Southeast Asian deletion(--SEA/). Of 100 alpha-thalassemia individuals screened for the (--SEA/) mutation, 99 (96 with alpha-thalassemia trait and 3 with hemoglobin H disease) were detected by the present method. This mutation was not found in the remaining one with alpha-thalassemia compound Hb Q. We also used this assay to analyse DNA samples from cord blood in 6 pregnancies at risk of Bart's hydrops fetalis, in 1 at risk of Hb H disease for prenatal diagnosis.

      Pubmed     Full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…