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Table 1

Polymorphisms in NEUROG3

LocationNucleotide*Nucleotide changeDesignationAmino acid changeDesignationFrequency of major allele
MODYNondiabetic
5′-UTR –44–45 delCA g.–44–45delCA   CA, 0.94 0.94 
Codon 167 499 G/A g.499G/A Gly (GGG) > Arg (AGG) G/R167 G, 0.98 1.00 
Codon 199 596 T/C g.596T/C Phe (TTT) > Ser (TCT) F/S199 T, 0.72 0.64 
LocationNucleotide*Nucleotide changeDesignationAmino acid changeDesignationFrequency of major allele
MODYNondiabetic
5′-UTR –44–45 delCA g.–44–45delCA   CA, 0.94 0.94 
Codon 167 499 G/A g.499G/A Gly (GGG) > Arg (AGG) G/R167 G, 0.98 1.00 
Codon 199 596 T/C g.596T/C Phe (TTT) > Ser (TCT) F/S199 T, 0.72 0.64 
*

Nucleotide numbering: the A of the ATG of the initiator Met codon is denoted nucleotide +1, and the lower case “g” for gene in front of the nucleotide number indicates that the reference sequence is the genomic sequence (if the reference sequence was the cDNA sequence, lower case “c” for cDNA would precede the nucleotide number) (15). The frequency of each substitution was determined in unrelated subjects with MODY (n = 57) and 49 (g.596T/C) or 47 (g.–44–45delCA and g.499G/A) unrelated nondiabetic (by oral glucose tolerance testing) subjects. Both the patients and control subjects were ascertained through the Diabetes Center, Tokyo Women’s Medical University. We also typed these polymorphisms in a small group of Japanese patients with type 2 diabetes (n = 52) and in a random sample of German subjects (n = 65–73). The allele frequencies in these groups are as follows: Japanese subjects with type 2 diabetes g.–44–45delCA, CA = 0.93; g.499G/A, G = 0.99; and g.596T/C, T = 0.75; and German subjects g.–44–45delCA, CA = 0.62; g.499G/A, G = 0.95; and g.596T/C, T = 0.33. There is no significant difference in allele frequency of the F/S199 polymorphism between MODY patients and nondiabetic control subjects: χ2 = 1.42, P = 0.23. UTR, untranslated region.

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