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Polymorphism of Human Galactose-1-Phosphate Uridyl Transferase

 

作者: John C. Mulley,  

 

期刊: Human Heredity  (Karger Available online 1982)
卷期: Volume 32, issue 1  

页码: 42-45

 

ISSN:0001-5652

 

年代: 1982

 

DOI:10.1159/000153256

 

出版商: S. Karger AG

 

关键词: Galactosaemia;Galactose-1-phosphate uridyl transferase;Genetic polymorphism;Gene frequencies

 

数据来源: Karger

 

摘要:

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 scr

 

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