Detection of ?-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens

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Abstract
This paper describes DNA polymerase chain reaction (PCR) amplification directly from dried blood specimens for the detection of the β-thalassemia mutation in China. Target DNA was amplified to span the β-globin gene regions, which included ten types of mutation sites specific for Chinese β-thalassemias. Ten kinds of oligonucleotide probes were constructed and used to hybridize with the amplified DNA. A total of 170 β-thalassemia alleles originating from eastern, southwestern and southern China were analyzed. The results revealed that the distributions of different types of mutations were different in the three regions. The most common types in southern China were a frameshift at codons 41/42 and a C→T substitution at IVS II n.654, the most frequent types in south-western China were codon 17 and IVS II n.654 mutations, and the predominant mutations in eastern China were frameshifts at codons 41/42 and 71/72.