Over 130 mutations have been identified in human GALT gene (3). These range from missense, nonsense, and splice site mutations to small and large deletions.
The most common classic galactosemic (G) allele is the Q188R mutation. A glycine to arginine change at codon 188 is caused by an A to G missense mutation. It is present in all ethnic groups to varying extents. It is the most common mutation in white galactosemic patients in the United States.
K285N is the second most common among white patients and is most prevalent among patients derived from the area of Southern Germany, Croatia, and Austria. K285N is owing to G to T change that converts a lysine to asparagine at codon 285.
Y209C mutation is due to A to G change that substitutes cystine for tyrosine at codon 209. L195P is caused by a T to C change resulting in leucine to proline at codon 195. These two mutations account for about 2% of white galactosemic patients.
From: Methods in Molecular Biology, vol. 217: Neurogenetics: Methods and Protocols Edited by: N. T. Potter © Humana Press Inc., Totowa, NJ
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