Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes Journal Article
| Authors: | Garlepp, M. J.; Wilton, A. N.; Dawkins, R. L.; White, P. C. |
| Article Title: | Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes |
| Abstract: | Human cDNA probes for 21-hydroxylase (21-OH) and for complement component C4 are used on restriction digests of the members of several families with interesting supratypes. The presence of two Taq I fragments of 3.7 kb and 3.2 kb in size with a 21-OH probe is confirmed in most individuals who show no evidence of C4 deletions or 21-OH deficiency. Most individuals also show a doublet of weakly hybridizing bands at approximately 2.5 kb, the smaller of which is part of the 21A gene. The arrangement of the 21-OH genes on disease-associated supratypes was examined, and it is shown that copies of the same supratype from unrelated individuals are usually identical. Evidence is provided for deletions of 21A on the B8, C$AQ0 C4B1, BfS, DR3 and B18, C4A3, C4BQ0, BjF1, DR3 supratypes and a duplication of 21A on the B14, C4A2, C4B1/B2, BfS supratype. Gene rearrangements may be relevant to diseases such as juvenile onset diabetes mellitus. © 1986 Springer-Verlag. |
| Keywords: | clinical article; gene deletion; heredity; genetic predisposition to disease; alleles; dna; genetic engineering; diagnosis; gene duplication; major histocompatibility complex; genetic markers; gene structure; disease susceptibility; human; male; female; priority journal; dna restriction enzymes; support, non-u.s. gov't; steroid hydroxylases; dna probe; congenital disorder; steroid 21 monooxygenase; complement 4; steroid 21-hydroxylase; complement 4a |
| Journal Title: | Immunogenetics |
| Volume: | 23 |
| Issue: | 2 |
| ISSN: | 0093-7711 |
| Publisher: | Springer |
| Date Published: | 1986-02-01 |
| Start Page: | 100 |
| End Page: | 105 |
| Language: | English |
| DOI: | 10.1007/bf00377968 |
| PUBMED: | 3007340 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 18 August 2021 -- Source: Scopus |
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