1.HLA-linked Genetic Markers in Koreans.
Joo Deuk KIM ; In Hong CHOI ; Se Jong KIM
Yonsei Medical Journal 1983;24(2):127-131
The polymorphic variants of HLA-linked genetic markers GLO, Bf, C2 and C4 were determined in Koreans. The GLO2 allele was found at a similar frequency as compared with other orientals and at higher frequency than in Caucasians. The gene frequencies of BfS and BfF showed different figures from those in other orientals and were similar to Caucasians. The C2C allele was the highest variant as in other populations. The rare variant C2A was not observed in this study. The common variants of C4A alleles are C4A*3 and C4A*4. Among the C4B variants, C4B*1, C4B*2 and C4B* QO are common in that order. Several undefined electrophoretic variants C4A and C4B were observed in this study. These findings suggest that the frequencies of various HLA-linked genetic markers can be used in anthropological studies.
Caucasoid Race
;
Comparative Study
;
Genetic Markers*
;
HLA Antigens/genetics*
;
Human
;
Korea
;
Mongoloid Race*
;
Polymorphism (Genetics)
2.HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
Ji Yon LEE ; Kyung Hwa YOO ; Si Houn HAHN
Journal of Korean Medical Science 2000;15(2):179-182
Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this mutation. However, the prevalence of hemochromatosis in the Asian population was reported to be very low and ethnic heterogeneity has been suspected. The aim of our study was to determine the prevalence of heterozygosity and homozygosity for the C282Y HFE gene mutations in 502 unrelated Koreans. Results revealed that none of them had the mutant gene, suggesting a significant ethnic difference when compared with Caucasians. Our study excluded underlying possibility of hereditary hemochromatosis in Korean which could mimic the findings of alcoholic liver disease with iron overload or liver cirrhosis with chronic hepatitis C.
Alleles
;
Caucasoid Race/genetics*
;
DNA Primers
;
Genetic Screening
;
Genotype
;
HLA Antigens/genetics
;
Hemochromatosis/genetics*
;
Hemochromatosis/ethnology*
;
Histocompatibility Antigens Class I/genetics
;
Human
;
Korea/epidemiology
;
Mongoloid Race/genetics*
;
Point Mutation*
;
Prevalence