Background :
@EN As glucokinase is known to be a regulator of glucose homeostasis in liver and pancreatic β-cells, the defects in the glucokinase gene has been considered as one of the candidate gene of NIDDM, Some variations in frequencies of CA repeat
polymorphism at glucokinase gene were reported in various ethnic groups. It was also reported that there was different degree of association of glucokinase polymophism with NIDDM in various ethnic groups. This study was performed to investigate
the
frequencies of CA repeat polymorphism at the glucokinase gene for normal subjects and NIDDM subjects who have family history of diabetes.
@ES Method :
@EN The recruited subjects were 96 control subjects and 64 NIDDM patients who had family history of diabetes. Through chart review 41 patients out of 64 NIDDM could be clinically characterized. BMI, plasma glucose level at fasting and after 2hr
glucose
loading, fasting c-peptide, and HbA1c were evaluated. Genomic DNA of each subjects was extracted from peripheral white blood cells. A microsatellite polymorphism 3' to the glucokinase gene was typed using the PCR and plyacrylamide gel
electrophoresis.
@ES Result :
@EN The most common Z allele with 195nucleotides was observed. Besides, Z+2 and Z+4 allele cold be observed. Z+6, Z+8, Z+!0 and Z-15, which were reported in the other racial groups, were not observed in this study. No significant differences in
the
frequencies of the CA repeat polymorphism could be observed between controls and Korean NIDDM with family history. In NIDDM, the frequence is of Z, Z+2 and Z+4 were 64%, 21%, and 15% respectively. The frequency of Z+2 allele was slightly greater
in
NIDDM than in controls although the difference was statistically insignificant. Six genotypes could be observed since the frequency of Z+2/Z was lower in controls than in patients (17.7% vs 32.8%.). When the frequency of genotypes such as Z+2/Z
were
compared with the frequency of the rest five of the group such as non-Z+2/Z by simple 2×2 X2 test. The frequency of other genotypes were not statistically different between controls and patients.
@ES Conclusion :
@EN The frequency of Z+2 allele was slightly greater and the frequency of Z+2/Z genotype was significantly greater in Korean NIDDM than in control(p<0.06). Since the NIDDM has been associated with a different allele in various studies, CA repeat
polymorphism itself cannot have any effects on the functioning of the glucokinase gene but acts as a a marker in linkage disequilibrium with a pathogenic mutation within the coding or regulatory region of the glucokinase gene. Thus further study
should
be performed to state definitively regarding the CA repeat marker and NIDDM.
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