• Korean Journal of Biological Psychiatry
• /
• v.4 no.2
• /
• pp.218-224
• /
• 1997

The results regarding an association between the polymorphism sites in the dopamine $D_1$ receptor gene and schizophrenia compelled us to study the distribution of the polymorphism in Korean schizophrenia and controls. Eighty-eight schizophrenic patients and normal controls were examined by case-control study for distribution of the polymorphism of the dopamine $D_1$ receptor gene in Korean popualtion to minimize the effect of racial differencies in gene frequencies. The frequencies of the $B_1$ and $B_2$ in schizophrenic patients were 0.11 and 9.89, respectively. And 0.10 and 0.90 in normal control. Ther was no significant differences in the frequencies in the allele $B_1$ and $B_2$between schizophrenic patients and normal controls. The author present here the evidence of a lack of alleic association between the polymorphism of the dopamine $D_1$ receptor gene and Korean schizophrenic patients. The assumption that the dopamine $D_1$ receptor gene has a genetic role in the development of schizophrenia was not suppoorted by this case-control study.

• Korean Journal of Mathematics
• /
• v.30 no.1
• /
• pp.67-72
• /
• 2022

For a locus with two alleles (I^A and I^B), the frequencies of the alleles are represented by $$p=f(I^A)={\frac{2N_{AA}+N_{AB}}{2N},\;q=f(I^B)={\frac{2N_{BB}+N_{AB}}{2N}$$ where N_AA, N_AB and N_BB are the numbers of I^AI^A, I^AI^B and I^BI^B respectively and N is the total number of populations. The frequencies of the genotypes expected are calculated by using p², 2pq and q². Choi showed the method of whether some genotypes is in these probabalities. Also he calculate the probability generating function for offspring number of genotype under a diploid model( [1]). In this paper, let x(t, p) be the probability that I^A become fixed in the population by time t-th generation, given that its initial frequency at time t = 0 is p. We find adapted equations for x using the mean change of frequence of alleles and fitness of genotype. Also we apply this adapted equations to several diploid model and it also will apply to actual examples.

• Journal of Animal Science and Technology
• /
• v.44 no.2
• /
• pp.207-212
• /
• 2002

This study was conducted to investigate the genotypes and frequencies of Melanocortin 1 Receptor(MC1R) genes in pigs which plays a central role in regulation of eumelanin (black/brown) and phaeomelanin(red/yellow) pigment synthesis within the mammalian melanocytes. Four different breeds of pigs(20 Landrace, 20 Yorkshire, 20 Duroc, and 93 Jeju native black pigs) were used and PCR-RFLP analysis of MC1R gene was also carried out. Two regions of MC1R genes (428bp and 405bp) were amplified using two specific primers (MERL1-EPIG2, EPIG1-EPIG3), respectively and MC1R allele were determined using 2 restriction enzymes (BspHⅠ, AccⅡ). The results of this experiment indicated that MC1R allelic type in Landrace, Large Yorkshire and Duroc were MC1R *2 (Ep), MC1R *2 (Ep), MC1R *4 (e), respectively. However, various allelic types of MC1R genes were detected in Jeju native black pigs. MC1R allelic type of Jeju black pigs was MC1R*2 type as in Meishan and Large black breeds or MC1R*3 type as in Hampshire and Berkshire breeds and the gene frequencies of ED1 and ED2 were 0.554 and 0.446 in average.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.9
• /
• pp.4689-4693
• /
• 2012

Lung cancer is the most common type of cancer and one of the leading causes of death in the world. Genetic factors play an important role in its development. PDCD6, the encoding gene for programmed cell death protein 6, may function as a tumor suppressor gene. Non-small cell lung cancer (NSCLC) contributes about 80% to newly histologically diagnosed lung cancer patients. To explore the relationship between PDCD6 and NSCLC, we examined two single nucleotide polymorphisms(rs3756712 G/T andrs4957014 G/T, both in the intron region) of the PDCD6gene.A hospital-based case-control study was carried out including 302 unrelated NSCLC patients and 306 healthy unrelated subjects. Significantly increased NSCLC risk was found to be associated with the T allele of rs4957014 (P=0.027, OR=0.760, 95%CI=0.596-0.970). The genotype and allele frequencies of rs3756712 did not shown any significant difference between NSCLC group and controls (P=0.327, OR=0.879, 95%CI=0.679-1.137). In conclusion, we firstly demonstrated the association between the PDCD6 gene and risk of NSCLC in a Chinese Han population.

• Environmental Mutagens and Carcinogens
• /
• v.22 no.3
• /
• pp.157-163
• /
• 2002

The role of the kidney in initiating hypertension has been much debated. The SA gene is expressed in the kidney and is association with hypertension in man and in experimental animal models. Also, increased plasma concentrations of homocysteine have been found in patients with coronary artery disease (CAD) and hypertension. The genetic variation of methlene tetrahydrofolate reductase (MTHFR) gene is related to its enzyme activity and to the plasma homocysteine concentration. In view of the effect of SA and MTHFR as risk factor for cardiovascular diseases, we investigated the Pst I RFLP of the SA gene and C667T mutation of the MTHFR gene in the Korean patients with hypertension. There were no significant differences in the allele and genotype frequencies of these polymorphisms between normotensive and hypertensive subjects. Therefore, our results do not support a possible role of these genes on hypertension in Korean population.

• Toxicological Research
• /
• v.18 no.3
• /
• pp.233-240
• /
• 2002

In view of the effect of $\beta_2$-Adrenergic receptors ($\beta_2$-AR) as a risk factor for essential hypertension, we investigated the Fnu4HI and MnlI RFLPs of $\beta_2$ -AR gene in the Korean patients with essential hypertension and normal controls. There were no significant differences in the allele and genotype of these polymorphisms between normotensive and essential hypertensive subjects. In ethnic comparison, the allele frequencies of these three sites contained Nde I RFLP reported the association with essential hypertension in Korean population previously, were very different from those of other ethnic populations studied. The significant linkage disequilibrium was detected only in hypertensive group between Nde I and Fnu4HI sites. The Fnu4HI RFLP was also significantly associated with plasma triglyceride (TG) level. Therefore, our results suggest that the significant association between Fnu4HI variation in the human $\beta_2$-AR gene and plasma TG level may reflect the potential role of human $\beta_2$-AR gene as one of the genetic components for cardiovascular risk.

• Biomedical Science Letters
• /
• v.11 no.2
• /
• pp.227-235
• /
• 2005

It has been reported that endurance performance is influenced by various environmental and genetic factors. In view of an important role of human mitochondrial DNA (mtDNA) as a candidate for endurance performance, this study focused on the relationships between $VO_{2max}$ value as a measure of endurance performance or other associated phenotypes and four mtDNA restriction fragment length polymorphisms (RFLPs) (Bam HI, Hinc II1, Hinc II2 and Nci I) in the NADH dehydrogenase subunit 5 and one (Kpn I) in the D-loop region of mtDNA. MtDNA was purified from buffy coat in human peripheral blood, and PCR-RFLP analysis was performed to estimate the allele frequencies of each polymorphism in the mtDNA. There were no significant differences in allele distributions of all polymorphisms studied between male athletes and controls, respectively (P>0.05). However, the Kpn I polymorphism was significantly associated with diastolic blood pressure level in male athletes, respectively (P<0.05). Therefore, our results suggest that this polymorphism might be one of the factors modifying inter-individual difference in cardiovascular risk. Further studies using larger sample size will be required to generalize these results from the study described herein.

• Journal of Plant Biology
• /
• v.38 no.1
• /
• pp.39-45
• /
• 1995

Glycine soja Sieb. et Zucc., a predominantly selfing annual, has been served as a reservoir of germplasm for soybean, G. max (L.) Merr., cultivar improvement. This study describes the levels and distribution of genetic variation within and among 22 Korean populations of G. soja using starch gel electrophoresis. The species maintains very similar levels of genetic variability within populations observed in most other annuals. At the population level, the mean percent of polymorphic loci (P) was 32.6%, mean number of allele per locus (A) was 1.32, and mean expected heterozygosity (He) was 0.112. In addition, total genetic diversity (HT) calculated only for polymorphic loci was 0.347. However, significant differences in allele frequencies among populations were found for all loci (P<0.001 in each case) and, on average, about 70% of the total variation in the species is common to all populations. Indirects estimate of the number of migrants per generation (Nm=0.58, calculated from mean GST) indicates that gene flow is low among Korean populations of the species. In addition, analysis of fixation indices revealed a substantial heterozygote deficiency in most populations and at all loci. This indicates that most populations sampled may have been substructed largely due to inbreeding (predominantly selfing) and restricted gene flow, coupled with founder effect and genetic drift. Considering a high genetic divergence among populations, it is recommended that several Korean populations of the species should be preserved, especially such as populations in the eastern and southeastern Korean peninsula with high variation.

• Journal of Sasang Constitutional Medicine
• /
• v.15 no.1
• /
• pp.109-117
• /
• 2003

There have been several the reports that the mechanism of Sasang consititution might be understood in the level of genes. Previous study of the authors showed that HLA types and constitutional information had significant relationships. One hundred subjects who showed Taeum characteristics were selected in the present study. HLA-A, HLA-B, HLA-DRB1, ACE, ${\beta}-IIAR$, ${\beta}-IIIAR$, UCP-1, and ALDH2 polymorphisms were analyzed. Also, ACE, ${\beta}-IIAR$, ${\beta}-IIIAR$, UCP-1, and ALDH2 analyses were performed on the 100 samples of previous study who showed Taeyang characteristics. Despite of several significant differences of HLA allele frequencies between Taeum-inclined group and normal control group, this significance level was not sufficient ro support the association between constitution and HLA genes, because of the raised alpha error rate. The polymorphisrns of ACE, ${\beta}-IIAR$, ${\beta}-IIIAR$, UCP-1, and ALDH2 genes did not show relationship between Taeyang-inclined and Taeum-inclined groups, whereas BMI showed difference between Taeyang-inclined and Taeum-inclined groups. ALDH2 in Taeyang-inclined group confirmed the protective role of ALDH2*2 allele against alcoholism.

• Korean Journal of Veterinary Research
• /
• v.39 no.6
• /
• pp.1066-1072
• /
• 1999

The present study was carried out to investigate the blood markers of Cheju horses. The red cell types (blood groups) were tested from 73 Cheju native horses and 118 Cheju racehorses by serological procedures with 23 reagents. The blood group phenotypes observed with high frequency were Pb(34.3%), Qc(56.2%), Qb(15.1%) and genotypes Dbcm/dghm(12.3%), Dde/dghm(9.6%), Dad/bcm(6.8%), Dcgm/de(6.8%) in Cheju native horses, while Aa(63.6%), Pa(44.9%), P-(28.8%), Qabc(36.4%), Dbcm/cgm(14.4%), Dbcm/bcm(10.2%), Dbcm/de(7.6%), Dbcm/dghm(5.1%), Dde/dk(5.1%) in Cheju racehorses. Alleles observed with high frequency were Ab(0.128), Ac(0.169), Dad(0.103), Dadn(0.075), Ddghm(0.226), Pb(0.316), Qc(0.494) in Cheju native horses and Aa(0.529), Dbcm(0.306), P-(0.531), Qabc(0.197), Q-(0.504) in Cheju racehorses. No specific variation of blood groups and allele frequencies of C,K,U system were observed in Cheju native horses and Cheju racehorses. The mean heterozygosity in Cheju native horses and Cheju racehorses was observed 0.5344 and 0.5102, respectively.