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Congenital cardiac malformations in Adams-Oliver syndrome |
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| Authors: | Hugo H. Zapata Lisa J. Sletten Mary Ella M. Pierpont |
| Affiliation: | Regional Genetic Laboratory and Consultancy Services, East Birmingham NHS Hospital Trust;Population and Environmental Research Group, School of Biological Sciences, The University of Birmingham;Clinical Genetics Unit, Birmingham Maternity Hospital, Birmingham, UK |
| Abstract: | Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome. |
| Keywords: | hypoxanthine phosphoribosyltransferase (HPRT) intragenic deletion Lesch-Nyhan Syndrome (LNS) |