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주천기,노창래,목지원,리영준,김동해,박영기,Choun-Ki Joo,MD,PhD,Chang Rae Rho,MD,Jee Won Mok,PhD,Young Jun Lee,MD,PhD,Dong Hae Kim,MD,Young Ki Park,MD 대한안과학회 2012 대한안과학회지 Vol.53 No.6
Purpose: To report the characteristics and genetic epidemiology of keratoconus patients in the Korean population based on questionnaires, ophthalmologic findings, and genetic studies. Methods: From September 2007 through August 2009, an epidemiologic investigation was performed through questionnaires and ocular examination of 190 keratoconus patients. To investigate the genetic cause, blood samples were taken from the keratoconus patients. Genetic analysis of keratoconus was performed through the analysis of sensitive candidate genes. Results: The mean age of the study subjects was 29.6 years. Seventy-seven percent of the subjects rubbed their eyes with 17 percent suffering from atopy, allergy, and asthma. Thirty-two percent of subjects demonstrated Vogt’s striae as the most frequent biomicroscopic keratoconus finding. No family history was found. Genetic analysis showed sensitive genetic variations of VSX1, LUM, and IL1B. Conclusions: Epidemiology of Korean keratoconus patients was investigated through research and genetic study resulting in discovery of sensitive genes. J Korean Ophthalmol Soc 2012;53(6):839-848
p53 gene mutations and amplification of c-erbB-2 in breast cancer
Yoon, Keun-young,Mok, Jee-Won,Lee, Min-hyuk,Park, Sung-sup,Park, Kyung-Sook 성신여자대학교 기초과학연구소 2001 基礎科學硏究誌 Vol.19 No.-
유방암은 종양억제 유전자 p53의 돌연변이 또는 기능 상실의 유전적인 요인과 종양유전자 c-erbB-2의 활성화에 의해 일어날 수 있으며, 한국 여성의 암발병율에서 3위를 차지하고 있다. 29명의 한국인 infiltrating ductal 유방암 환자를 대상으로 p53 유전자의 exons 2에서 11까지의 돌연변이를 PCR-Single Strand Conformation Polymorphism법과 직접염기서열분석법으로 분석하고, c-erbB-2의 증폭을 differential PCR로 확인하였다. 연구결과 20.6% (6예)의 p53 돌연변이가 나타났는데, 한개의 점돌연변이 (엑손 7: CD 248 CGG→ CAG)와 다섯개의 격자이동 돌연변이 (엑손 5: CD 181 -G, 엑손 6: CD 196 -G, 엑손 7· CD 234 -C, 엑손 8: CD 291 +A, 엑손 9: CD 316 +GG)로 다섯개의 격자이동 돌연변이가 많이 나타났다. 엑손 2-4 및 10-11에서는 돌연변이가 발견되지 않았다. c-erbB-2 증폭은 3예 (10%)에서 나타났으며, p53 돌연변이와 c-erbB-2 증폭은 유의한 상관관계를 보이지 않았다. 환자의 연령, 병기, 에스트로겐 수용체/프로게스테론 수용체, 종양의 크기, 폐경 및 림프절 전이도, p53 및 c-erbB-2와 관련하여 살펴보았으나 특이한 상관관계는 발견되지 않았다. p53 돌연변이 빈도와 분포는 일본, 미국, 프랑스등에서 보고된 결과와 유사하였으나, 돌연변이 양상은 점돌연변이가 대부분인 타 실험결과와는 달리 격자이동 돌연변이가 83%로 나타났다. 이로써, p53의 돌연변이는 지역이나 인종에 따라차이를 보이며, 유방암의 발병은 p53 종양억제 유전자의 체세포변이에 의함을 알 수 있었다.
박경숙,정태호,목지원 한국유전학회 2001 Genes & Genomics Vol.23 No.2
The variant genes of ethanol metabolic enzymes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls, or distinct ethnic groups. The codon 47 of ADH2, the codon 271 of ADH3, the -1017 C/T, the -1259 G/C and the 7632 T/A in intron 6 of CYP2E1 and codon 487 of ALDH2 genotypes were investigated to determine the risks for alcoholism. The frequency of ADH2^*1/^*1 homozygote was significantly higher among alcoholics compared with that among controls (36.5% vs 8.0%, p=0.001). ADH3^*1/^*1 homozygote was present in a lower proportion of alcoholics than controls (47.6% vs 78.3%, p=0.001). All alcoholics had the ALDH2^*1 allele as heterozygous or homozygous genotypes; only 6.3% of alcoholics had the ALDH2^*2 alleles as heterozygous genotype, while 47.6% of the non-drinkers had the ALDH2^*2 allele as heterozygous or homozygous genotypes. For intronic polymorphisms in the CYP2E1, SNP did not differ between alcoholics and controls. Among nondrinkers, the frequencies of ADH2, ADH3 and ALDH2 genotypes were markedly different from those of the alcoholics. According to these results, genetic variation at these genes certainly influences the development of alcoholism, especially, the ADH2^*1 (OR=2.9; 95% CI=1.67-5.08), ADH3^*2 (OR=3.4; 95% CI=1.74-6.48) and ALDH2^*1(OR=6.0; 95% CI=1.42-25.39) alleles. On the other hand, the ADH2^*2, ADH3^*1 and ALDH2^*2 alleles are protected from excessive drinking, so these are popular among non-drinkers.
Park, Kyung Sook,Kim, Yung Jin,Mok, Jee Won,Lee, Mi Hae 충남대학교부설 생명공학연구소 1992 생물공학연구지 Vol.2 No.-
한국인 383명의 Complement Componet 6(C6)의 유전적 다형을 등전점 전기영동과 immunoblotting으로 조사하였다. 5가지 allotypes, C6 A, C6 B, C6 B2, C6 M1, C6 M11이 나타났고, 이들의 대립유전인자 빈도는 C6^*A = 0.4399, C6^*B = 0.5144, C6^*B2 = 0.0392로 산출되어 이는 동아시아인과 비슷하였다. The phenotyping of the sixth complement component (C6) was performed on plasma or serum samples from 383 unrelated Korean, by IEF and immunoblotting using anti-human C6 serum. Three common allotypes, C6 A, C6 B and C6 B2 and two rare allotypes, C6 M1 and C6 M11 were observed. The allele frequencies of C6^*A, C6^*B and C6^*B2 were estimated to be 0.4399, 0.5144, 0.0392, respectively. These frequencies are similar to those of the Eastasian populations.
Park, Kyung Sook,Kim, Yung Jin,Mok, Jee Won,Lee, Mi Hae 충남대학교 기초과학연구소 1991 연구논문집 Vol.11 No.-
한국인 383명의 Complement Component 6(C6)의 유전적 다형을 등전점 전기영동과 immunoblotting으로 조사하였다. 5가지 allotypes. C6 A, C6 B, C6 B2, C6 M1, C6 M11이 나타났고, 이들의 대립유전인자 빈도는 C6*A=0.4399, C6*B=0.5144, C6*B2=0.0392로 산출되어 이는 동아시아인과 비슷하였다. The phenotyping of the sixth complement component (C6) was performed on plasma or serum samples from 383 unrelated Korean, by IEF and immunoblotting using anti-human C6 serum. Three common allotypes, C6 A, C6 B and C6 B2 and two rare allotypes, C6 M1 and C6 M11 were observed. The allele frequencies of C6*A, C6*B and C6*B2 were estimated to be 0.4399, 0.5144, 0.0392, respectively. These frequencies are similar to those of the Eastasian population.