Document Detail

Polymorphism of human galactose-1-phosphate uridyl transferase.
MedLine Citation:
PMID:  6279487     Owner:  NLM     Status:  MEDLINE    
Frequencies for the electrophoretically detectable alleles of galactose-1-phosphate uridyl transferase were determined from 406 neonates in Adelaide. GALT*D and GALT*LA frequencies were 0.054 and 0.027, respectively. The expected proportion of heterozygotes was 15.3%, with a GALT N-D component of 10%. The distinction between GALT*D and GALT*LA is essential for estimation of the expected frequency of GALT DG genotypes, an unknown proportion of which are detected as 'deficient' from neonates on galactosaemia screen.
J C Mulley
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human heredity     Volume:  32     ISSN:  0001-5652     ISO Abbreviation:  Hum. Hered.     Publication Date:  1982  
Date Detail:
Created Date:  1982-06-14     Completed Date:  1982-06-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0200525     Medline TA:  Hum Hered     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  42-5     Citation Subset:  IM    
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MeSH Terms
Electrophoresis, Starch Gel
Galactosemias / diagnosis
Gene Frequency
Infant, Newborn
Nucleotidyltransferases / genetics*
Polymorphism, Genetic*
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*
Reg. No./Substance:
EC 2.7.7.-/Nucleotidyltransferases; EC Uridylyltransferase

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