Abstract
Duchenne muscular dystrophy (DMD) and the Lesch-Nyhan (LN) syndrome are human genetic diseases that arise from heterogeneous mutations at the dystrophin and the hypoxanthine phosphoribosyltransferase (HPRT) loci, respectively.1,2 The genes that are deficient in the two diseases are located on the X-chromosome but have many other different features (Figure 1). While the DMD gene spans more than two megabases of DNA, is split into more than sixty exons and has a mature mRNA that is approximately 14 kb in length, the HPRT gene is just 44 kb in length3 and produces a 1.6-kb mature mRNA. Dystrophin is expressed in muscle and brain and is not detectable in other tissues.4,5 In contrast, the HPRT gene product is ubiquitously expressed6 Examination of the molecular basis of LN and DMD by Southern analysis reveals that the spectrum of mutations in the two disorders is also different. Approximately 60% of DMD mutations are associated with DNA deletions7 while only 15% of LN patients have abnormal Southern patterns that indicate DNA deletions or other gross rearrangements.8 Approximately 80% of LN cases also produce HPRT mRNA that appears normal by Northern analysis, suggesting a preponderance of single DNA base changes9 As an additional difference, several informative DNA sequence polymorphisms have been identified within the dystrophin gene7,10 while there are few genetic markers that are both informative and closely linked to HPRT.
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Gibbs, R.A., Chamberlain, J.S., Caskey, C.T. (1989). Diagnosis of New Mutation Diseases Using the Polymerase Chain Reaction. In: Erlich, H.A. (eds) PCR Technology. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-20235-5_15
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DOI: https://doi.org/10.1007/978-1-349-20235-5_15
Publisher Name: Palgrave Macmillan, London
Print ISBN: 978-0-333-48948-2
Online ISBN: 978-1-349-20235-5
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