Direct sequencing of enzymatically amplified human genomic DNA.
- 1 January 1988
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 85 (2) , 544-548
- https://doi.org/10.1073/pnas.85.2.544
Abstract
The polymerase chain reaction is a recently described technique that uses flanking oligonucleotide primers and repeated cycles of enzymatic primer extension to amplify a short segment of DNA by < 100,000-fold. By use of sequencing primers located internal to the amplification primers, direct genomic sequence was obtained from enzymatically amplified DNA by using the dideoxynucleotide chain-termination method. The method is relatively simple and offers significant advantages in indentifying mutations in genes for which the normal sequence is known. Heterozygous and homozygous mutations in the human .beta.- and .gamma.-globin loci were unambiguously identified in 3 days with < 1 .mu.g of genomic DNA.This publication has 22 references indexed in Scilit:
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