Abstract
A sample of 15 from our collective of 30 patients with lesch nyhan syndrome and its variant forms, which were previously studied for enzyme kinetics, immuno CRM profiles and selection in various growth media (Singh et al 1985-previous meeting) were further examined by molecular genetic techniques. DNA and RNA from cultured fibroblasts and blood were subjected to southern or nortern blot analysis with full length cDNA of HPRT.§. Four patients showed abnormal patterns with PstI in the southern blots(enzymes used included TaqI, HindIII, PstI, EgIII, EamHI, EcoRI) which could be interpreted as deletions of various exons of the HPRT gene. Two of these are interesting novel mutations involving exon 2 and 3, and 6 to 9. In some other mRNA positive cases the RNAase A mapping was attempted with success revealing a small deletion or a point mutation. The results point to a large heterogeneity of lesions in the HPRT gene.
§Thanks are due to Prof. C.T.Caskey and Dr.J.T.Stout and Dr.R.Gibbs (Dept.of Molecular Genetics, Houston) for the initial help and the Deutsche Forschungsgemein-schaft for the financial support.
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Singh, S., Willers, I., Held, K. et al. 144 LESCH NYHAM SYNDROME AND HPRT VARIANTS: Study of heterogeneity at the gene level. Pediatr Res 24, 135 (1988). https://doi.org/10.1203/00006450-198807000-00168
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DOI: https://doi.org/10.1203/00006450-198807000-00168