Gene Frequencies and Phenotypes of Transferrin C Subtypes and Haptoglobin in Korean Population

한국인집단의 Transferrin C Subtypes와 Haptoglogin Phenotypes의 분포와 유전자 빈도

Genetic polymorphism of transferrin $(T_f)$ subtypes in Jeju population was studied by isoelectric focusing of human sera on polyacrylamide gels under high voltage, and haptolobin (Hp) polymorphism in Seoul and Jeju population was studied by polyacrylamide gel electrophoresis. Among 946 normal samples, three common types of transferrin, $T_{f}C_{1}, T_{f}C_{1}-C_{2} and T_{f}C_{2}$ were observed with some variants migrating slower than $T_{f}C$ subtypes, while among 139 patient (hepatitis) samples, only three common types were found. The gene frequencies were calculated as follows; in normal population, $T_{f}C^{1}$ was 0.7220; $T_{f}C^{2}, 0.2743; T_{f}D^{Jeju}, 0.0037$, and in patient population, $T_{f}C^{1} was 0.7194; T_{f}C^{2}, 0.2806$ respectively. Among 460 samples in Seoul and 502 in Jeju population, three types of haptoglobin, Hp 1-1, Hp 2-1 and Hp 2-2 were observed. The gene frequency of $Hp^1$ was 0.304, $Hp^2$, 0.696 in Seoul and in Jeju, $Hp^1$ was 0.269 and $Hp^2$, 0.731, respectively. The frequencies of the genes and the polymorphic phenotypes were discussed comparatively with the other populations.

한국인집단에서 Transferrin C subtypes와 Haptoglobin polymorphism의 분포 및 유전자 빈도에 관한 본 연구에서 얻은 결과는 다음과 같다. 제주집단에서 관찰된 Transferrin C subtypes은 주로 $T_{f}C_{1}, T_{f}C_{2}$ 및 $T_{f}C_{1}-C_{2}$형이었는데 $T_{f}C_{1}$과 $T_{f}C_{1}-C_{2}$이 51%와 42%로 나타났으며, 유전자 빈도는 $T_{f}C^{1}, T_{f}C^{2} 및 T_{f}D^{Jeju}$가 각각 0.7220, 0.2743 및 0.0037이었다. Haptoglobin의 유전자 빈도는 서울집단에서 460명, 제주집단에서 502명을 대상으로 추정한 결과 서울집단에서 $Hp^1 = 0.304, Hp^2 = 0.696$이었고, 제주집단에서는 0.269와 0.731이었으며 두 집단사이에 빈도 차이는 유의하지 않았다.