Human Genetics

, Volume 71, Issue 3, pp 254–258

The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase)

Authors

  • S. E. Humphries
    • Department of BiochemistrySt. Mary's Hospital Medical School
  • F. Tata
    • Department of BiochemistrySt. Mary's Hospital Medical School
  • I. Henry
    • Groupe de Recherches de Biologie Prenatale, INSERM U 73Chateau de Longchamp
  • F. Barichard
    • Groupe de Recherches de Biologie Prenatale, INSERM U 73Chateau de Longchamp
  • M. Holm
    • Department of BiochemistrySt. Mary's Hospital Medical School
  • C. Junien
    • Groupe de Recherches de Biologie Prenatale, INSERM U 73Chateau de Longchamp
  • R. Williamson
    • Department of BiochemistrySt. Mary's Hospital Medical School
Original Investigations

DOI: 10.1007/BF00284585

Cite this article as:
Humphries, S.E., Tata, F., Henry, I. et al. Hum Genet (1985) 71: 254. doi:10.1007/BF00284585

Summary

We have used a cDNA clone for Chinese hamster 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase to isolate a genomic recombinant for human HMG-CoA reductase. The identity of the gene was confirmed by partial sequence analysis. Several unique fragments that will be useful for restriction fragment length polymorphism (RFLP) studies were identified. In situ hybridisation of a 2.6kb unique fragment of the gene to human metaphase chromosomes localised the human HMGCoA reductase gene to human chromosome 5q12.

Copyright information

© Springer-Verlag 1985