Article
Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome.
Molecular human reproduction - 1 Aug 1998
Daniels R, Adjaye J, Bolton V, Monk M
Abstract excerpt
We have detected a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene in two human oocytes and four preimplantation embryos from the 4-cell to the 8-cell stage of development. The novel HPRT transcript lacks exons 4, 5 and 6 of the normal HPRT gene. The same p...
Topics
- Base Sequence
- Embryo, Mammalian
- Female
- Genetic Variation
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Molecular Sequence Data
- Oocytes
- Pregnancy
- Preimplantation Diagnosis
- RNA Splicing
- Reverse Transcriptase Polymerase Chain Reaction
- Transcription, Genetic