Table 1 of
Szabo, Mol Vis 2007;
13:659-666.Table 1 of
Szabo, Mol Vis 2007;
13:659-666.
Table 1. Allele frequencies found in our study population and allele frequencies found in the Caucasian population.
The genotypic distributions in our study and in literature are shown. Allele frequencies found in our study population are in line with allele frequencies found previously in Caucasian population. Homozygotes carrying the polymorphic alleles were not found in our study population either in the case of N363S polymorphism nor in the case of ER22/23EK polymorphisms. The asterisk indicates the data was taken from the Ensembl Genome Browser SNPView Database. The double asterisk indicates the data were taken from references [16] and [20].
Allele
frequencies
Number in
of Caucasian
Polymorphism Genotype patients Allele Allele frequency population
------------ -------- -------- ------ ---------------- -----------
N363S WT:AA 94 A 96.1% (196/204) 91,7-97,9%*
P:AG 8 G 3.9% (8/204) 2,1%-8,3%*
P:GG 0
Bcl I WT:GG 49 G 71.1% (145/204) 71,1-73%**
P:GC 47 C 28.9% (59/204) 27-28,9%**
P:CC 6
ER22/23EK WT:GG 99 G 98.5%(201/204) 97-98,7%*
P:GC 3 C 1.5% (3/204) 1,3-3%*
P:CC 0
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