Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency Journal Article

  


Authors: Mornet, E.; Couillin, P.; Kutten, F.; Raux, M. C.; White, P. C.; Cohen, D.; Boué, A.; Dausset, J.
Article Title: Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency
Abstract: DNAs from unrelated healthy individuals and unrelated individuals affected with 21-hydroxylase deficiency (congenital and late-onset adrenal hyperplasia) were digested with seven restriction enzymes and hybridized with a cDNA probe specific for human 21-hydroxylase genes. Associations were found between restriction fragments and the two forms of the disease: (i) The late onset form is associated with a double dose of a 14 kb fragment generated by Eco RI and with a triple dose of a 3.2 kb fragment generated by TaqI in patients with HLA B14 haplotypes; (ii) The classical congenital form is negatively associated with the 14 kb fragment and with a 3.7 kb fragment generated by TaqI in patients with HLA Bw47 haplotypes. A 3.2 kb TaqI fragment is negatively associated with the HLA B8 haplotypes. The other five enzymes tested give no polymorphisms or polymorphisms without correlation with the two forms of the disease. © 1986 Springer-Verlag.
Keywords: clinical article; heredity; genetic engineering; diagnosis; polymorphism, genetic; hla-b antigens; hla antigens; linkage (genetics); genetic markers; endocrine system; restriction fragment length polymorphism; polymorphism, restriction fragment length; deoxyribonucleases, type ii site-specific; humans; human; priority journal; dna restriction enzymes; steroid hydroxylases; dna probe; congenital adrenal hyperplasia; deoxyribonuclease ecori; congenital disorder; steroid 21 monooxygenase deficiency; adrenal hyperplasia, congenital; steroid 21 monooxygenase; steroid 21-hydroxylase
Journal Title: Human Genetics
Volume: 74
Issue: 4
ISSN: 0340-6717
Publisher: Springer  
Date Published: 1986-12-01
Start Page: 402
End Page: 408
Language: English
DOI: 10.1007/bf00280494
PUBMED: 2878869
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-0022903358&doi=10.1007%2fBF00280494&partnerID=40&md5=fe46403c6271f73f518a06179da50767
Notes: Article -- Export Date: 18 August 2021 -- Source: Scopus; Acknowledgments: We are grateful to H. M. Cann for helpful discussions.
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