Summary
The human gene encoding the α-polypeptide of propionyl-CoA carboxylase (PCC) has hitherto been localized to the distal half of the long arm of chromosome 13, segment 13q22→q34. We studied the enzyme activities of mitochondrial carboxylases in cell cultures obtained from patients with different deletions of chromosome 13. By setting the PCC activity in normal diploid cell cultures (control group) at 100%, cell cultures with trisomy 13 showed 150% activity. In contrast, one of four patients with partial monosomy 13 had an enzyme activity of only 50%. Thus, by comparative deletion mapping, combined with studies of the gene-dosage effect, we have been able to assign the PCCA gene locus to chromosome band 13q32.
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References
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Kennerknecht, I., Suormala, T., Barbi, G. et al. The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32. Hum Genet 86, 238–240 (1990). https://doi.org/10.1007/BF00197713
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DOI: https://doi.org/10.1007/BF00197713