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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