한국인의 AGGF1 E133K 유전변이연구

Abstract

Study of AGGF1 E133K Genetic Variation in the Korean population

Sung Hyun Lee Advisor: Prof. Dae Soo Moon MD, Ph.D Department of Laboratory Medicine Graduate School of Chosun University

Background : The E133K genetic variation of AGGF1 gene that is a potent angiogenetic factor have been assumed genetic susceptible factor for Klippel-Trenaunay syndrome. However, frequency and clinical significances of AGGF1 E133K genetic variation have not been known in the Korean population. The aim of the study was to investigate frequency and clinical significances of AGGF1 E133K variation in Korean.

Material and Method : The 958 subjects, including 950 healthy controls, 3 Klippel-Trenaunay syndrome patients and 5 relatives were enrolled in the study. Genotyping of AGGF1 E133K was carried out by allele-specific polymerase chain reaction (AS-PCR) in all samples and reconfirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) in 201 samples.

Results : In 950 healthy controls, frequency of AGGF1 E133K genetic variation was 0.11% (1/950). One healthy control with heterozygotic AGGF1 E133K genetic variation was not shown features of Klippel-Trenaunay syndrome. All three patient with Klippel-Trenaunay syndrome and their relatives have wild genotype of AGGF1 E133. Results with AS-PCR and PCR-RFLP was identical in randomly selected 201 samples.

Conclusion: AGGF1 E133K is very rare genetic variation in the Korean population. However, this result bring into questionable state whether AGGF1 E133K is a mutation and a susceptible factor of Klippel-Trenaunay syndrome in the Korean population. This study is the first report of AGGF1 E133K genetic variation in Korean population.

Key Word: AGGF1, E133K, Klippel-Trenaunay Syndrome, Allele-specific PCR