RAPID ANTENATAL DIAGNOSIS OF BETA-THALASSEMIA IN CHINESE CAUSED BY THE COMMON 4-BP-DELETION IN CODONS-41 42 USING HIGH-RESOLUTION AGAROSE-GEL ELECTROPHORESIS AND HETERODUPLEX DETECTION/

The 4-bp deletion in codons 41/42 (-TTCT) in the beta-globin gene is a common mutation that causes beta-thalassemia in Chinese. A simple met hod, which involved PCR amplification of the relevant region, was used for the antenatal diagnosis of a fetus at risk for this mutation. The fetal PCR product showed a single fragment of normal size on MetaPhor gel. The homozygous normal status was further confirmed by the genera tion of heteroduplexes only after addition of homozygous mutant DNA. ( C) 1994 Academic Press, Inc.