• Journal of Korean Society of Forest Science
• /
• v.72 no.1
• /
• pp.16-26
• /
• 1986

Allozyme study on a small pitch pine stand originating and expanded rather rapidly from a few founder trees indicated that the colonization of the pitch pine population was made progressively from the place where the founder trees located to another by moving in cohorts of seeds from a limited number of family or genetically closely related family groups in line with the succeeding generations. This pattern of migration and colonization resulted marked differences in allelic and genotypic frequencies at many of the allozyme loci between the initially colonized subpopulation on the south-facing slope and the lately colonized subpopulation on north-facing slope of a hill. It appeared that gene fixation due to inbreeding and genetic drift occurred at some loci in the pitch pine population or subpopulations. However, even in t 1e inbreeding small pitch pine population or subpopulations, a comparatively large amount of genetic diversity or heterozygosity was maintained due to the high levels of gene recombination at many of the gene loci and natural selections favoring for heterozygotes.

• Environmental Mutagens and Carcinogens
• /
• v.22 no.1
• /
• pp.12-21
• /
• 2002

Genetic polymorphisms of the renin-angiotensin system (RAS) have been associated with hypertension in various ethnic groups, but no relation between these polymorphisms and hypertension has yet been systematically evaluated. To assess the relationship between allelic variation of RAS genes and hypertension, we performed the case-control studies using genetic markers in Korean normotensives and hypertensives. The allele and genotype frequencies of RAS genes in Korean population were not significantly different between normotensives and hypertensives. To investigate the distribution of allele frequencies among various populations, the data obtained in this study were compared to those in other ethnic groups studied previously. Except for T174M polymorphism of angiotensinogen (AGT) gene, allele frequencies of RAS genes were different among racial groups. The reason for these differences may be due to the difference in various genetic or environmental background or due to the effects by various sample size studied. In addition, it can be emphasized that carefully designed studies are required to minimize the ethnic heterogeneity of the case and control populations.

• Proceedings of the Plant Resources Society of Korea Conference
• /
• 2020.08a
• /
• pp.47-47
• /
• 2020

The Korean National Agrobiodiversity Center holds the more than 1300 accessions of proso millet, but a large portion of accessions are landrace of Korea that has very similar traits. To comprehend the maximum genetic diversity of this crop, a core collection with minimum number of accessions will facilitate easy access to genetic material. Here we assessed the genetic diversity and population structure in a germplasm collection of 830 accessions by employing EST-SSR markers and morphological traits. A total of 107 alleles were detected with an average allele number of 4.9 per locus among the 830 accessions based on 37 EST-SSR markers. The number of alleles per locus ranged from 2 to 7. Polymorphism information content and expected heterozygosity ranged from 0.06 to 0.68 (mean = 0.21) and 0.06 to 0.73 (mean = 0.23), respectively. The germplasm collection was separated into two groups based on population structure analysis, whereas principal coordinate analysis (PCoA) could not cluster accessions according to their geographic origin. Subsequently, a preliminarily developed core collection with a total of 141 accessions (17%) was selected from the whole set of germplasm by combining allelic variations of EST-SSR markers and eight different phenotypic traits. The core collection optimally represented the whole germplasm collection and displayed a similar level of PCoA value and genetic variation from the initial collection. The results obtained here provide a primary resource for further genetic analysis and establish a reference for further development of appropriate genetic breeding strategies.

• Journal of Life Science
• /
• v.18 no.12
• /
• pp.1733-1738
• /
• 2008

SLC6A18, one of the neurotransmitters, was reported the possible relationship to hypertension, and it contained eight blocks of minisatellites. In this study, SLC6A18-MS5 sequence which showed the highest heterozygosity among seven minisatellites was analyzed using the Transfac software, the putative binding sites for the transcription factor Pax4 and HNF4 were discovered as a result. The HNF4 is involved in the diabetes pathway and suggested the relationship to hypertension. Thus, we investigated the putative functional significance of allelic variation in this minisatellites with respect to susceptibility for hypertension. To address this possibility, we analyzed genomic DNA from the blood of 301 hypertension-free controls and 184 cases with hypertension. A statistically significant association was not identified between the allelic distribution of SLC6A18-MS5 and occurrence of hypertension. We then examined the meiotic segregation of SLC6A18-MS5 and it was transmitted following Mendelian inheritance. Therefore, this locus could be useful markers for paternity mapping and DNA fingerprinting. Moreover, we undertook a comprehensive analysis of the genomic sequence to address the evolutionary events of these variable repeats. SLC6A18 minisatellites regions are only conserved in human and primates. This result suggestedthat intronic minisatellites analysis is powerful evolution marker for the non-coding regions in primates and can provide a great insight to the molecular evolution of repeated region in primates.

• Journal of Korean Society of Forest Science
• /
• v.80 no.2
• /
• pp.246-254
• /
• 1991

Genetic structure of a Pinus densiflora population consisting of two subpopulations on the north-and south-facing slopes of a mountain was studied by allozyme analysis. Allozyme variants in aspartate aminotransferase(AAT), glutmate dehydrogenase(GDH) and leucine aminopeptidase(LAP) systems are encoded, at least, by eight loci ; five for AAT, one for GDH and two for LAP. Average number of alleles examined over six loci was 3.33. Average heterozygosity and genetic diversity computed over six loci were, respectively, 0.19 and 2.76 for parental population, 0.17 and 2.22 for progeny population. Differences in allelic frequencies between maternal sources at many of the investigated loci were found and between subpopulations on the north- and south-facing slopes. Allele frequencies of maternal origin at some of the loci were significantly different from each other between the two subpopulations. Thus it appears that the matings within and between subpopulations were not random and the mountain ridge that divides the north-and south-facing slopes isolate the two suhpopulations reproductively to a great extent. Some of the genotypes both in parental and progeny(embryo) groups deviate significantly from the Hardy-Weinberg equilibrium state. It appears from the result that the pine population is originated from a few limited ancestral trees and thus consanguineous matings are prevalent in this pine population.

• Korean Journal of Biological Psychiatry
• /
• v.7 no.2
• /
• pp.152-158
• /
• 2000

Background : No association between schizophrenia and dopamine D4 receptor polymorphisms have been reported. Despite these results, it is premature to exclude the association. It has been suggested that the susceptibility to develop schizophrenia could result from variation at a number loci which may interact or coact with each other. Therefore, we investigated a possible association of combinations of exon III 48bp polymorphism[D4E3] and exon I 12bp polymorphism of the DRD4 gene [D4E1] with schizophrenia. Methods : 207 unrelated Korean schizophrenic patients and 191 healthy controls were recruited. DRD4 genotype was established using the polymerase chain reaction. Statistical analysis consisted of ${\chi}^2$ tests for Hardy-Weinberg proportions and genotypic and allelic frequencies in the patients and control groups. Results : There were no statistically significant differences in the each polymorphisms between schizophrenics and controls. And all genotype frequencies were within Hardy-Weinberg expectations. When the combinations of the polymorphism in schizophrenia and controls were compared, however, there were significant differences at $A1A2^*2/4$ in the distributions of the combinations of D4E1 and D4E3(p<0.01). Conclusions : These findings suggest that the certain combination of D4E1 and D4E3($A1A2^*2/4$) has the protective role to a susceptibility for schizophrenia.

• IMMUNE NETWORK
• /
• v.3 no.2
• /
• pp.103-109
• /
• 2003

Background: As all HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule. PCR-SSOP (Polymerase chain reaction-Sequence specific oligonucleotide probe) techniques were frequently used for HLA-DQA1 and DQB1 typing but certain alleles, $DQA1^*0101/0104/0105$, $^*302/0303$, $*0501/0505$ and $DQB1^*0201/^*0202$ which differ from each other in segment other than exon 2, could not be unequivocally assigned. Methods: To overcome this problem, we applied additional PCR-SSP (PCR-Sequence specific primer) method to analyze DQA1 exons 1, 3 and 4 and DQB1 exon 3. And we investigated the distributions and haplotypes of HLA-DRB1, DQA1 and DQB1 alleles in 406 unrelated Korean healthy individuals. Results: Using this method the indistinguishable alleles of DQA1 and DQB1 in PCR-SSOP were typed definitively. We also found several important associations between DQA1 and DQB1 alleles in the Korean population; $DQA1^*0101-DQB1^*0501$, $DQA1^*0104-DQB1^*0502$ or $-^*0503$, $DQA1^*0105-DQB1^*0501$, $DQA1^*0302-DQB1^*0303$, $DQA1^*0303-DQB1^*0401$ or $-^*0402$, $DQA1^*0501-DQB1^*0201$, $DQA1^*0505-DQB1^*0301$, and $DQA1^*0201-DQB1^*0202$. The haplotypes of DRB1-DQA1-DQB1 associated with $DQA1^*01$, $^*03$, $^*05$, and $DQB1^*02$ subtypes were investigated. Several haplotypes associated with these alleles were observed in the Korean population. Conclusion: Our results can be helpful to find potential unrelated donors for bone marrow registries and study the HLA-associated disease and anthropology at high-resolution allelic level.

• Archives of Pharmacal Research
• /
• v.26 no.11
• /
• pp.967-973
• /
• 2003

Cytochrome P4502C9(CYP2C9) is largely responsible for terminating anticoagulant effect by hydroxylation of S-warfarin to inactive metabolites. Mutations in the CYP2C9 gene result in the expression of allelic variants, CYP2C9*2 and CYP2C9*3 with reduced enzyme activity compared to wild type CYP2C9 *1. The aim of this study was to assess relationship between requirement of warfarin dose and polymorphism in CYP2C9 in Korean population. Patients on warfarin therapy for longer than 1 year were included from July 1999 to December 2000 and categorized as one of four groups; regular dose non-bleeding, regular dose bleeding, low dose non-bleeding and low dose bleeding. Low dose was defined as less than 10 mg/week for 3 consecutive monthly follow-ups. Bleeding complications included minor and major bleedings. Blood samples were processed for DNA extraction, genotyping and sequencing to detect polymorphism in CYP2C9. Demographic data, warfarin dose per week, prothrombin time (INR), indications and co-morbid diseases were assessed for each group. Total 90 patients on warfarin were evaluated; The low dose group has taken warfarin 7.6$\pm$1.7 mg/week, which was significantly lower than 31.4$\pm$0.9 mg/week in the regular dose group (p<0.0001). The measured INR in the low dose group was similar to that of the regular dose group (2.3$\pm$0.7 vs. 2.3$\pm$0.6, p=0.9). Even though there was a higher possibility of CYP2C9 variation in the low dose group, no polymorphism in CYP2C9 was detected. All patients were homozygous C416 in exon 3 for CYP2C9*2 and A1061 in exon 7 for CYP2C9*3. The DNA sequencing data confirmed the homozygous C416 and A 1061 alleles. In conclusion, polymorphism in CYP2C9 is not a critical factor for assessing warfarin dose requirement and risk of bleeding complications in a Korean population.

• Molecules and Cells
• /
• v.21 no.2
• /
• pp.284-293
• /
• 2006

Even though Ac/Ds gene-tagging systems have been established in many higher plants, maize is the only major plant in which short-distance transposition of Ac/Ds has been utilized to probe gene function. This study was performed to evaluate the efficiency of obtaining new alleles and functional revertants from Ds insertion loci in rice. By analyzing 1,580 plants and the progeny of selected lines, the insertion sites and orientations of Ds elements within 16 new heritable alleles of three rice loci were identified and characterized. Intragenic transposition was detected in both directions from the original insertion sites. The closest interval was 35 bp. Three of the alleles had two Ds elements in cis configuration in the same transcription units. We also analyzed the excision footprints of intragenic and extragenic transpositions in Ds-inserted alleles at 5 loci. The 134 footprints obtained from different plants revealed predominant patterns. Ds excision at each locus left a predominant footprint at frequencies of 30-75%. Overall, 66% of the footprints were 7-bp additions. In addition, 16% of the excisions left 0-, 3-, 6-, and 9-bp additions with the potential of conserving reading frame.

• KOREAN JOURNAL OF CROP SCIENCE
• /
• v.30 no.4
• /
• pp.449-454
• /
• 1985

In order to search for the semi-dwarf japonica varieties allelic to the semi-dwarf rice cultivar which is controlled by d-t gene, seven dwarf japonica varieties. Reimei, Hoyoku. Shiranui, Kokumasari, M 7. S.224 and S.295 were crossed to the semi-dwarf cultivar, wx 817. wx 817 is known to have semi-dwarf gene d-t. Their F$_1$, F$_2$ and F$_3$ were grown in 1984 and 1985 and culm lengths were measured at harvest. The results are summarized as follows. 1. The F$_2$s of all 7 cross combinations showed normal distribution and no segregation. 2. The range of culm length variation in the F$_3$ was variable depending on the cross combination, but the general pattern was similar in the all 7 crosses. 3. The mean of F$_3$ and parental F$_2$ mean which were selected into short, medium and tall groups were similar and showed no segregation, implying the selection efficiency in F$_2$. 4. From the results of F$_2$ and F$_3$ segregations, it is concluded that the culm length of the 7 semi-dwarf japonicas tested here are controlled by the same major gene d-t although they are modified by different minor genes.