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한국인 집단에서 VDR, COLIA1 및 ER 유전자의 RELP
안광숙,박선미,김우정 대전대학교 기초과학연구소 2001 自然科學 Vol.12 No.1
본 연구는 골다공증과 관련되어 있는 것으로 알려진 vitarmin D receptor(VDR), collagen |α|(COLIA1) 및 estrogen receptor(ER) 유전자와 골다공증의 연관성을 연구하기 위하여 실시하였다. 대조군과 골다공증 환자를 대상으로 이 세 유전자에 대하여 PCR을 실시하고, 제한효소, Bsml, AccB71, Pvull 및 Xbal를 이용하여 restriction fragment length polymorphism(RFLP)를 관찰하였다. 본 연구에서 한국인 집단은 이 세 가지 유전자의 다형현상과 골다공증 사이에 연관성이 없는 것으로 밝혀졌으며, 한국인에 대한 연구 결과와 다른 민족에 대한 대립인자의 빈도는 유의한 차이가 있는 것으로 나타났다. 이 연구 결과 VDR, COLIA1 및 ER 유전자의 다형현상은 한국인에서 골다공증의 지표로 사용할 수는 없으나, 민족 집단에 대한 유전적 연구에 유용하게 사용될 수 있으리라고 사료된다. In view of the reported association between osteoporosis and polymorphism of the vitamin D receptor (VDR), collagen I a l (COLIAI)- and estrogen receptor (ER) gene, an association study was performed between control group and osteoporosis one for VDR, CQLIM- and ER genotypes in Korean women. The gene polymorphisms were evaluated by restriction fragment length polymorphism analyses, using the restriction enzymes BsmI (VDR), AccB7I (COLIAI), and PvuⅡ and XbaI (ER), respectively. No significant differences in genotype distributions of allele frequencies were observed between &e cases and controls for any of the gene polymorphisms. This study does not support the hypothesis of a major contribution of the VDR, COLIAI or ER polymorphisms to explain variations in osteoporosis. We found the significant difference of genotype distribution at VDR, COLIAI or ER loci in different ethnic populations. These results may be useful for the genetic study of ethnic populations.
GENETIC STUDIES OF KOREAN POPULATION : 31. GENETIC POLYMORPHISM OF MANNOSE PHOSPHATE ISOMERASE
AHN, GWANG SOOK,KIM, YUNG JIN 충남대학교 생물공학연구소 1996 생물공학연구지 Vol.4 No.-
In a series of genetic studies of Korean population, genetic polymorphism of mannose phosphate isomerase was investigated in 309 placental samples by using the method of horizontal starch gel electrophoresis. The number of MPI 1-1 and MPI 3-1 phenotypes observed was 299 and 10, respectively. The allele frequencies for Mpi^1 and Mpi^3 were found to be 0.9838 and 0.0162, respectively, which were similar to those of Chinese and Papua New Guinean in Port Moresby.
Ahn, Gwang Sook,Kim, Yung Jin 충남대학교 기초과학연구소 1994 연구논문집 Vol.14 No.-
In a series of genetic studies of Korean population, genetic polymorphism of mannose phosphate isomerase was investigated in 309 placental samples by using the method of horizontal starch gel electrophoresis. The number of MPI 1-1 and MPI 3-1 phenotypes observed was 299 and 10, respectively. The allele frequencies for MPI^1 and MPI^3 were 0.9838 and 0.0162, respectively, which were similar to those of Chinese.
Genetic Variation of Placental Aconitase in Korean Population
안광숙,강윤희 한국유전학회 1996 Genes & Genomics Vol.18 No.1
The genetic variation of placental aconitase (ACON : E.C. 4.2.1.3) was investigated in 311 Korean placentae by horizontal starch gel electrophoresis. We found that the numbers of individuals showing ACO1 1-1, ACO1 2-1 and ACO1 2-2 phenotype were 285(91.6%), 25 (8.1%) and 1 (0.3%), respectively. The allele frequencies of ACO1¹and ACO1²were 0.957 and 0.043. In contrast to the polymorphic phenotype of cytoplasmic aconitase (ACO1), mitochondrial aconitase (ACO2) was found to be monomorphic. Our results show that the allele frequencies in Korean population are similar to those of Japanese population. The results further confirm the previous suggestion that the frequency of ACO²allele in Mongoloid group including Korean seems to be higher than that of other racial groups.
안광숙 대전대학교 기초과학연구소 1999 自然科學 Vol.10 No.2
한국인을 대상으로 3번과 9번 염색체의 단완에 있는 8가지 유전자좌(D3S1228, D3S1029, D3S1038, THRB, IFNA, D9S171, D9S126, 및 D9S169)에서 polymerase chain reaction 과 polyacrylamide gel electrophoresis 방법을 이용하여 microsatellite의 다형현상을 분석하였다. 각 유전자좌에서 발견된 대립인자의 수는 3개 (D9S126) 내지 9개 (D3S1029)가 관찰되었으며, 각 유전자좌에 따라 산출된 heterozygosity 빈도는 0.17 (D9S126) 에서 0.73 (D9A169)의 범위에 속하여 매우 polymorphic 한 것을 알 수 있었다. 본 연구에서 사용한 microsatellite marker는 유전적으로 매우 다양함에 따라 유전적 지표로서 친자확인, 개인동정, 유전자 지도작성에 널리 이용될 수 있음을 확인하였다. In Korean population, we analyzed the polymorphism of microsatellite at 3p(D3S1228, D3S1029, D3S1038, THRB) and 9p (IFNA, D9S171, D9S126, D9S169) by the use of polymerase chain reaction and polyacrylamide gel electrophoresis. The number of alleles at locus were range from 3 (D9S126) to 9 (D3S1029) and the frequencies of heterozygosity were from 0.17 (D9S126) to 0.73 (D9A169) with a mean value of 0.50. In the present study, 8 loci were high polymorphic and had genetic variation. This result suggests that microsatellite markets used in this study are very useful as genetic markers for parentage testing, forensic identification, and medical diagnostics.
안광숙,강윤희 대전대학교 기초과학연구소 1995 自然科學 Vol.6 No.-
한국인 집단의 태반내 효소 Malic enzyme (ME: E.C.1.1.1.40), lsocitrate dehydrogenase (ICD: E.C.1.1.1.42) 및 Acid-α-Glucosidase (α-GLU: E.C.3.2.1.20)의 유전적 변이를 밝히기 위하여 horizontal starch gel electrophoresis 방법을 이용하여, 315명의 태반에서 동위효소 ME, ICD 및 α-GLU의 표현형을 분석하였다. 전기영동 결과 ME는 soluble form 인ME?1-1, ICD는 mitochondrial form 인 ICD? 1-1과 soluble form ICDs 1-1으로 고정되어 있었으며, α-GLU는 common phenotype인 α-GLU 1-1으로 고정되었다. 본 연구에서 MEs. ICD?, ICDDs 및 α-GLU의 우전자좌는 한국인 집단에서 변이가 없었고, 이것은 중국인 집단의 연구결과와 동일하였다. Genetic variations of malic enzyme (ME: E.C.1.1.1.40), isocitrate dehydrogenase (ICD:E.C.1.1.1.42) and acid-α-glucosidase (α-GLU: E.C.3.2.1.20) were investigated in 315 Korean placentae by using the horizontal starch gel electrophoresis. In the present study, four phenotypes such as MEs -1-1, ICD 1-1, ICDs 1-1 and α-GLU 1-1 were detected without any variation in Korean population. These results were the same as those of Chinese.