Application of natural and amplification-created restriction sites in prenatal and preimplantation diagnosis of beta-thalassemia.

P. L. Kuo, H. J. Liu, J. S. Chen, R. C. Wu, S. J. Lin, J. G. Chang

Research output: Contribution to journalArticlepeer-review

Abstract

We attempted the strategy of natural and amplification-created restriction sites for early prenatal and preimplantation diagnosis of Chinese beta-thalassemia. Mutagenesis primers were designed for 11 mutations reported for the Chinese population. The diagnosis was established after polymerase chain reaction and digestion of products by specific enzymes. The results were confirmed by direct sequencing of enzymatically amplified double-stranded DNA. The beta-globin gene was amplified from triploid embryos and isolated blastomeres using mismatched primers. The mutant and normal alleles can be distinguished clearly by this new method. Early prenatal diagnosis was successfully achieved in 9 cases. The beta-globin gene was successfully amplified from single blastomeres and tripronuclear embryos with mismatched primers. Natural and amplification-created restriction sites are a reliable method for rapid prenatal diagnosis of beta-thalassemia. Furthermore, the strategy provides a possible approach for the preimplantation diagnosis of beta-thalassemia.

Original languageEnglish
Pages (from-to)496-506
Number of pages11
JournalGaoxiong yi xue ke xue za zhi = The Kaohsiung journal of medical sciences
Volume11
Issue number9
Publication statusPublished - 1995 Sep

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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