Skip Navigation

This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (6)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Daniels, R.
Right arrow Articles by Monk, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Daniels, R.
Right arrow Articles by Monk, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Molecular Human Reproduction, Vol 4, 785-789, Copyright © 1998 by Oxford University Press

JOURNAL 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

R Daniels, J Adjaye, V Bolton and M Monk
Molecular Embryology Unit, Institute of Child Health, London, UK.

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 parental origin for the two oocytes and two of the preimplantation embryos, in which the alternatively spliced transcript was detected, might suggest that the alternative splicing is influenced by genetic background. Mutations in the HPRT gene which cause alternative mRNA splicing are implicated in Lesch-Nyhan syndrome. However, the relatively high frequency of detection of this novel HPRT transcript described here (6/109 oocytes and preimplantation embryos) suggests that it is not involved in Lesch-Nyhan syndrome. It is probable that the alternative HPRT transcript is derived from the aberrant splicing of a small percentage of the total mRNA produced from normal HPRT alleles. The presence of this alternative transcript in human preimplantation embryos may complicate an reverse transcription- polymerase chain reaction-based preimplantation diagnosis of Lesch- Nyhan syndrome.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Brief Funct Genomic ProteomicHome page
S. Sudheer and J. Adjaye
Functional genomics of human pre-implantation development
Brief Funct Genomic Proteomic, July 31, 2007; (2007) elm012v1.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. M. Kocabas, J. Crosby, P. J. Ross, H. H. Otu, Z. Beyhan, H. Can, W.-L. Tam, G. J. M. Rosa, R. G. Halgren, B. Lim, et al.
The transcriptome of human oocytes
PNAS, September 19, 2006; 103(38): 14027 - 14032.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
A. R. Thornhill and K. Snow
Molecular Diagnostics in Preimplantation Genetic Diagnosis
J. Mol. Diagn., February 1, 2002; 4(1): 11 - 29.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.