• Zhonghua Fu Chan Ke Za Zhi · Oct 1995

    [Direct genotyping and antenatal diagnosis of deletional alpha-thalassemia of the southeast Asian type by polymerase chain reaction technique].

    • M Zhong, Z Jin, and X Xu.
    • Nanfang Hospital, First Military Medical University, Guangzhou.
    • Zhonghua Fu Chan Ke Za Zhi. 1995 Oct 1; 30 (10): 597-9.

    ObjectiveTo study the gene of deletional alpha-thalassemia of the Southeast Asian type (SEA) and to perform the antenatal diagnosis.MethodsA new method of polymerase chain reaction technique using three primers bridging the breakpoints was carried out for carrier detection and antenatal diagnosis of deletional alpha-thalassemia of the Southeast Asian type. A DNA fragment of about 630bp in size was amplified in case of--SEA alleles, while a 224 bp fragment was amplified in samples without the deletion. Homozygotes, heterozygotes, and normal subjects could be clearly distinguished with the present method.ResultsWe used this method in the genotyping and antenatal diagnosis of 10 high risk pregnancies of alpha-thalassemia. 2 homozygotes, 4 heterozygotes, and 4 normal infants were found.ConclusionThe present method is simple and rapid in detection of carriers and antenatal diagnosis of the alpha-thalassemia of southeast Asian type.

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