Journal of Experimental Medicine, Vol 169, 1803-1818, Copyright © 1989 by Rockefeller University Press

ARTICLES

Direct observation of the gene organization of the complement C4 and 21- hydroxylase loci by pulsed field gel electrophoresis

I Dunham, CA Sargent, RL Dawkins and RD Campbell
Department of Biochemistry, University of Oxford, United Kingdom.

Pulsed field gel electrophoresis and enzymes that cut genomic DNA infrequently have been used to define large RFLPs at the human C4 loci. With the enzymes BssH II or Sac II, and C4 or 21-hydroxylase DNA probes, it has been possible to observe directly the number of C4 genes present on a haplotype, and also whether the C4 genes are long (6-7-kb intron present) or short (6-7-kb intron absent). Haplotypes that have either two long C4 genes or one long and one short C4 gene generate BssH II fragments of approximately 115 or approximately 105 kb, respectively. Haplotypes that have either a single long or a single short C4 gene generate BssH II fragments of approximately 80 or approximately 70 kb, respectively. This technique has been used to analyze the DNA isolated from PBMC and allows the complete definition of the C4 gene organization of an individual without the need for family studies.
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This article has been cited by other articles:

• Koppens, P F J, Smeets, H J M, de Wijs, I J, Degenhart, H J (2003). Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene. J. Med. Genet. 40: e53-53 [Full Text]  
• White, P. C., Speiser, P. W. (2000). Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. Endocr. Rev. 21: 245-291 [Abstract] [Full Text]  

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