Article
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
Human genetics - 1 Jun 1992
Marcus S, Steen A M, Andersson B, Lambert B, Kristoffersson U, Francke U
Abstract excerpt
A nonsense mutation at the CpG-site in the codon for Arg(169) in the gene for hypoxanthine phosphoribosyltransferase (hprt) was identified by genomic polymerase chain reaction (PCR) and DNA sequencing in cultured fibroblasts from two brothers with Lesch Nyhan's syndrome. The recurrence of mutatio...
Topics
- Base Sequence
- Cells, Cultured
- Dosage Compensation, Genetic
- Female
- Fetal Diseases
- Genetic Carrier Screening
- Heterozygote
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Male
- Molecular Sequence Data
- Mosaicism
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Prenatal Diagnosis
- Repetitive Sequences, Nucleic Acid