Document Detail

Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.
MedLine Citation:
PMID:  2887727     Owner:  NLM     Status:  MEDLINE    
Male mice embryos deficient in hypoxanthine phosphoribosyl transferase (HPRT), derived from heterozygous (carrier) females and normal males, were diagnosed by biochemical microassay of HPRT activity in a single cell isolated from the eight-cell preimplantation embryo. The sampled embryos were transferred to recipient mothers and examined on the 14th day of gestation to confirm the accuracy of the preimplantation diagnosis. The diagnosis was sufficiently rapid that freezing of the embryos before transfer was not necessary. Of the embryos diagnosed as HPRT negative all 4 that grew into fetuses were correctly identified as HPRT-deficient males.
M Monk; A Handyside; K Hardy; D Whittingham
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Lancet     Volume:  2     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1987 Aug 
Date Detail:
Created Date:  1987-09-29     Completed Date:  1987-09-29     Revised Date:  2003-11-14    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  423-5     Citation Subset:  AIM; IM    
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MeSH Terms
Blastomeres / analysis
Disease Models, Animal*
Embryo Transfer
Hypoxanthine Phosphoribosyltransferase / deficiency*
Lesch-Nyhan Syndrome / diagnosis*,  enzymology
Time Factors
Reg. No./Substance:
EC Phosphoribosyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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