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  • Title: [Rapid detection of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction and its application to prenatal diagnosis].
    Author: Xiao W, Xu X, Liu Z.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2000 Apr; 21(4):192-4. PubMed ID: 11876980.
    Abstract:
    OBJECTIVE: To establish a rapid and simple polymerase chain reaction (PCR) method for detecting alpha-thalassemia of Southeast Asia deletion, and apply it to the prenatal diagnosis for high risk fetuses. METHODS: Two pairs of primers were designed: one pair bridging the breakpoints to identify the specific deletion, the other located in the common deletion region of --(SEA), -alpha(3.7) and -alpha(4.2) gene to detect the normal chromosomes. In this system, the two amplifications ran in the same PCR tube under identical condition. RESULTS: A 740 bp fragment was amplified in chromosomes with --(SEA) determinant and a 1,052 bp fragment in normal chromosomes. For prenatal diagnosis, 3 of 8 at-risk cases were diagnosed as normal, 3 as heterozygotes, and 2 as homozygotes of --(SEA) deletion. CONCLUSION: This detection method is rapid and accurate and can be used as a routine method for carrier detection and prenatal diagnosis.
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