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21-hydroxylase deficiency markers in UK award:

This article was originally published in Clinica

Executive Summary

Research into 21-hydroxylase deficiency markers was honoured the Bayer Award at the Focus 2003 clinical diagnostics conference in Manchester, May 13-15 2003. Steroid 21-hydroxylase deficiency accounts for 95% of cases of congenital adrenal hyperplasia (CAH), opening the potential for developing a prenatal diagnostic tool. The research, led by Alison Jones and supervised by Dr Gill Rumsby, of the molecular urology department of University College London, assessed the potential of the two microsatellite regions 9N-II and 82-I to provide a non-radioactive method of detection, replacing other radioactively labelled markers. The 9N-II marker was found to be unsuitable for use in a diagnostic service. The heterozygosity and resolution of the 82-I region, however, were adequate for accurate analysis, enabling it to be introduced into a diagnostic service, the research concluded. Since completing the research, the 82-I marker has been introduced in routine testing.

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