• Korean Journal of Medicinal Crop Science
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• v.10 no.1
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• pp.5-11
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• 2002

The study of genetic diversity was carried out in Atractylodes japonica $K_{OIDZ}$. Although this species has been regarded as medically important one, there is no report on population structure in Korea. Starch gel electrophoresis was used to investigate the allozyme variation and genetic structure of eight Korean populations of this species. Of the 15 genetic loci surveyed, nine (60.0%) was polymorphic in at least one population. Genetic diversity was high at the species level $(H_{es}=0.144)$, whereas, that of the population level was relatively low $(H_{ep}=0.128)$. Nearly 87% of the total genetic diversity in A. japonica was apportioned within populations. The sexual reproduction, high fecundity, and perennials are proposed as possible factors contributing to high genetic diversity. The indirect estimated of gene flow based on Gst was 1.69.

• Journal of Life Science
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• v.16 no.1
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• pp.64-70
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• 2006

Starch gel electrophoresis was used to estimate genetic diversity and population structure of Pyrola fauriena H. Andr. in Korea. The percentage of polymorphic loci within enzymes was $57.1\%$. The values of genetic diversity at the species level and at the population were higher than average values for herbaceous with similar life history traits (Hes : 0.149; Hep = 0.134, respectively), whereas the extent of the population divergence was relatively low $(G_{ST}=0.082)$. $F_{IS}$, a measure of the deviation from random mating within the 12 populations, was 0.298. An indirect estimate of the number of migrants per, generation (Nm = 2.81) indicates that gene flow is moderate among Korean populations of the species. Analysis of fixation indices revealed a substantial heterozygosity deficiency in some populations and at some loci. This indicates that some populations sampled may have been substructured largely due to rhizotamous spread and decrease of population sizes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.50-54
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• 2020

Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.59-66
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• 2010

Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.

• Food Science of Animal Resources
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• v.24 no.4
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• pp.349-354
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• 2004

Stress-susceptible pigs have been known as the porcine stress syndrome (PSS), swine PSS, also known as malignant hyperthermia (MH), is characterized as sudden death and production of poor meat quality such as PSE (pale, soft and exudative) meat after slaughtering. PSS and PSE meat cause major economic losses in the pig industry. A point mutation in the gene coding for the ryanodine receptor (RYR1) in porcine skeletal muscle, also known calcium (Ca$^{2+}$) release channel, has been associated with swine PSS and halothane sensitivity. We used the PCR-RFLP(restriction fragment length polymorphism) and PCR-SSCP (single strand conformation polymorphism) methods to detect the PSS gene mutation (C1843T) in the RYR1 gene and to estimate genotype frequencies of PSS gene in Korean pig breed populations. In PCR-RFLP and SSCP analyses, three genotypes of homozygous normal (N/M), heterozygous carrier (N/n) and homozygous recessive mutant (n/n) were detected using agarose or polyacrylamide gel electrophoresis, respectively. The proportions of normal, carrier and PSS pigs were 57.1, 35.7 and 7.1％ for Landrace, 82.5, 15.8 and 1.7％ far L. Yorkshire, 95.2, 4.8 and 0.0％ for Duroc and 72.0, 22.7 and 5.3％ for Crossbreed. Consequently, DNA-based diagnosis for the identification of stress-susceptible pigs of PSS and pigs producing PSE meat is a powerful technique. Especially, PCR-SSCP method may be useful as a rapid, sensitive and inexpensive test for the large-scale screening of PSS genotypes and pigs with PSE meat in the pork industry.y.

• Journal of Korean Society of Forest Science
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• v.78 no.4
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• pp.345-359
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• 1989

This study was conducted to estimate genetic variation of Pinus densiflora in Kyungpook province which shows morphological variation between northern and southern types. Six isozymes sueh as IDH, ME, PGI, ADH, GOT and LAP was analyzed using megagametophyte tissue of seeds by electrophoresis and 16 populations of Pinus densiflora and 5 of Pinus thunbergii were tested. The results obtained were as follows ; 1. In P. densiflora, 13 Loci were found in 6 isozymes and 8 loci of them were polymorphic, having 24 alleles, while in Pinus thunbergii, there were 18 alleles detected from 6 loci among the same number of loci as in Pinus densiflora. 2. The genotypic frequency in Pinus densiflora vary slightly among populations for some isozymes, but most of them satisfied the law of Hardy-Weinherg equilibrium, while some populations such as Youngil for ADH and LAY, Youngyang for ADH and Bonghwa for LAY did not follow the law and showed high fixation index values and homozygosities higher than expected. 3. The variation among populations based on the genetic distance was small except populations of Youngju, Baegam, Gyungju and Sangju, however they could be clustered by three groups : northern Kyungpook group including Mt. Taebak, inland Kyungpook group represented by Sungju, Eusung and Kumleung population and coastal Kyungpook group represented by Baegam and Gyungju population. 4. No significant difference was found in 6 isozymes between northern and southern types of Pinus densiflora which was morphologically different. 5. The frequency of heterozygous loci per tree was higher in Pinus densiflora especially for ME-A and A DH-B, while that of homozygous loci was higher in Pinus thunbergii except for ADH-B, LAY-B and PGI-B locus.

• Journal of Korean Society of Forest Science
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• v.100 no.4
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• pp.577-584
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• 2011

To estimate level of genetic variation and genetic differentiation among populations of 3 populations in Abies koreana and 5 populations in Abies nephrolepis, 5 nSSR markers were analyzed. Except 1 locus where too many alleles were observed excessively, population genetic parameters were recalculated with 4 loci. Mean expected heterozygosities ($H_e$) were 0.292 in A. koreana and 0.220 in A. nephrolepis, respectively. In both species, positive fixation coefficient was estimated (F=0.065 for A. koreana and F=0.095 for A. nephrolepis), which suggests that there is an excess of homozygotes relative to Hardy-Weinberg expectations within populations. Relatively high degree of population differentiation was observed in A. koreana ($F_{ST}=0.063$). compared to that of A. nephrolepis ($F_{ST}=0.039$). From 3-level Hierarchical estimation of F-staticstics, only 4.9% of the genetic variation was allocated between species ($F_{PT}$), which suggested that most of genetic variation was shared between two species. On the basis of results from analysis of genetic relationships among populations, 2 populations of A. koreana (Mt. Halla and Mt. Deogyu) were genetically distinct from the populations of A. nephrolepis but a population of Mt. Jiri was allocated within a group of populations of A. nephrolepis. Populations of both species seemed to have undergone genetic drift due to gradual decrease in population size induced by global warming after the last glacier, which resulted in increase of homozygotes by inbreeding. It could be also postulated that these species might be diverged recently and It is likely that the two species have not fully speciated yet.

• Journal of Plant Biotechnology
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• v.43 no.3
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• pp.272-280
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• 2016

Chrysanthemum is one of the top floriculture species with ornamental and medicinal value. Although chrysanthemum breeding program has contributed to the development of various cultivars so far, it needs to be advanced from the traditional phenotype-based selection to marker-assisted selection (molecular breeding) as shown in major cereal and vegetable crops. Molecular breeding relies on trait-linked molecular markers identified from genetic, molecular, and genomic studies. However, these studies in chrysanthemum are significantly hampered by the reproductive, genetic, and genomic properties of chrysanthemum such as self-incompatibility, inbreeding depression, allohexaploid, heterozygosity, and gigantic genome size. Nevertheless, several genetic studies have constructed genetic linkage maps and identified molecular markers linked to important traits of flower, leaf, and plant architecture. With progress in sequencing technology, chrysanthemum transcriptome has been sequenced to construct reference gene set and identify genes responsible for developments or induced by biotic or abiotic stresses. Recently, a genome sequencing project has been launched on a diploid wild Chrysanthemum species. The massive sequencing information would serve as fundamental resources for molecular breeding of chrysanthemum. In this review, we summarized the current status of molecular genetics and genomics in chrysanthemum and briefly discussed future prospects.

• Journal of Life Science
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• v.31 no.10
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• pp.913-921
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• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Childhood Kidney Diseases
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• v.14 no.2
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• pp.166-173
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• 2010

Purpose : Genetic and clinical factors can influence the permeability of the peritoneal membrane. The peritoneal equilibration test (PET) is helpful in measuring peritoneal permeability in peritoneal dialysis (PD). We investigated the influence of genetic polymorphism of vascular endothelial growth factor (VEGF) on the PET parameters. Methods : Pediatric patients who underwent PET within 12 months of initiating PD at Seoul National University Children's Hospital and Samsung Medical Center were selected. The patients with positive history of peritonitis before PET were excluded. The VEGF -2578C/A, -14978T/C, -1154G/A, -634G/C, and +936C/T single-nucleotide polymorphisms were genotyped. Results : The mean 4-hour dialysate-to-plasma ratio for creatinine (D/P creatinine) and the mean 4-hour dialysate glucose to baseline dialysate glucose ratio (D/$D_0$ glucose) were $0.56{\pm}0.13$ and $0.43{\pm}0.11$, respectively. The patients with haplotype CTGGC showed higher 4-hour D/P creatinine ($0.67{\pm}0.12$ vs $0.50{\pm}0.09$, P=0.007) and lower 4-hour D/$D_0$ glucose ($0.35{\pm}0.12$ vs $0.47{\pm}0.08$, P=0.037) than those without haplotype CTGGC. Conclusion : The VEGF genetic polymorphism may influence the peritoneal solute transport.