Figure 9 .

Analysis of sequence variants in the expressed hemoglobin transcript in a Healthy Control – (C1), and Homozygous (S3-HbSS) and Heterozygous (S1-HbSC) Sickle Cell Patients Observed sequences of HBB (hemoglobin B) gene in the region including the known sickle cell mutation, which causes a substituion of valine (coded by CAC) for glutamic acid (coded by CTC). The box for the reads from sample C1 - control, show the observed sequences (on the coding strand, but in reversed order) and are consistently T at the mutation position. The box for sample S3 - HbSS shows the consistent substitution of A at this same position. The box for sample S1 - HbSC show approximately 50% substitution of A for T at this position, and an additional mutation at the neighboring postion C- > T. This sample was revealed to be from a compound heterozygous hemoglobin SC patient.

Raghavachari et al. BMC Medical Genomics 2012 5:28   doi:10.1186/1755-8794-5-28
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