Fig. 3
From: Molecular analysis of a large novel deletion causing α+-thalassemia
Polymerase chain reaction and sequencing analysis. a The PCR products were generated from the proband using primers P1 and P2. A unique 1.4 kb product was amplified in the sample of the proband, whereas DNA from Proband’s wife and son, and the normal individuals all failed to amplify this abnormal fragment. The 1.4 kb product was sequenced to determine the precise breakpoint of this deletion. M: DL2000 DNA marker. 1: Proband. 2: Proband’s wife. 3: Proband’s son. N: normal individuals. b Characterization of the breakpoints of this novel deletion by direct sequencing. Sequence analysis of the amplification obtained with gap-PCR using primers P1 and P2 helped us to characterize the breakpoints. As shown in the figure, a 6962bp sequence deletion (NG_000006.1: g.29785_36746) existed in the novel deletion