• Journal of Korean Society of Forest Science
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• v.88 no.3
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• pp.408-418
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• 1999

On the basin of RAPD analysis, genetic diversity and structure of the natural populations of Abies holophylla was estimated by AMOVA procedure. The average value of percent of polymorphic markers was 71.9%. Most variation existed among individuals within population(80.2%). Genetic differentiation among populations(${\Phi}_{ST}$) was 0.198. When the populations were grouped as two region(i.e., Taebaek and Sobaek Mountain Regions), 8.5% of the total genetic variation was explained as regional differences. The heterogeneity of molecular variance among populations was investigated with Bartlett's test, which revealed that populations of Mt. Taebaek and Mt. Gariwang were more heterogeneous. Generally, the populations of Taebaek Mountain Reion were more heterogeneous than those of Sobaek Mountain Reion. Finally, the applicability of AMOVA to the populations frenetic study was discussed in comparison with other measures of genetic differentiation which were widely used.

• Journal of Korean Society of Forest Science
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• v.94 no.4 s.161
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• pp.209-213
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• 2005

In order to provide the molecular genetic information necessary for conservation of bog whortleberry (Vaccinium uliginosum L), one of the rare species in Korea, I-SSR analysis was performed on two populations on Mt. Halla and Mt. Seorak. A total of 68 I-SSR products were observed, and higher level of genetic diversity was observed in Mt. Halla population (S.I.=0.539) than in the Mt. Seorak population (S.I,=0.401). Level of genetic diversity in this species was relatively higher than those in other rare species analysed with I-SSR marker. From the results of AMOVA, exceptionally large proportion of genetic diversity (33.5%) was resulted from genetic difference between two populations, and only 66.5% of the genetic variation was allocated in common among individuals within each population, compared with the results in other long-lived woody species. This remarkably high degree of genetic heterogeneity existed between Mt. Halla and Mt. Seorak populations might suggest that they might be originated from the independent progenitors before the post glacier ages, respectively, and/or that they undergone random genetic drift respectively due to geographical isolation resulted from dramatic changes in environmental conditions after the post glacier ages.

• Korean Journal of Plant Taxonomy
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• v.45 no.2
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• pp.145-157
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• 2015

The nucleotide sequences of nuclear ribosomal ITS regions and chloroplast rbcL, matK and psbA-trnH regions of 30 individuals of Dendrobium moniliforme from several localities in four countries and 28 related species of Dendrobium were compared to investigate the genetic differences among Korean, Japanese, Taiwanese and Chinese D. moniliforme, and to verify the homogeneity of D. moniliforme, which is used as a traditional medicine in East Asia. A phylogenetic analysis showed that Korean D. moniliforme and Japanese D. moniliforme form a monophyletic group, with no significant differences between their nucleotide sequences. This confirms that they are the same species. However, the Chinese and Taiwanese D. moniliforme were polyphyletic. Various species related to D. moniliforme were located between the Korean-Japanese D. moniliforme and the Chinese-Taiwanese D. moniliforme, and other related species were found between individuals of Chinese-Taiwanese D. moniliforme. D. moniliforme is described in Japan, providing evidence that the Korean-Japanese D. moniliforme is the original species. In addition, our data suggest that the Chinese-Taiwanese D. moniliforme complex is a mixture of a range of other species. Further studies are required to understand the taxonomic identity of this species. In the Korean-Japanese D. moniliforme, there were almost no genetic differences among the localities, whereas the genetic heterogeneity was high among individuals of the Chinese-Taiwanese D. moniliforme.

• Korean Journal of Plant Resources
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• v.21 no.1
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• pp.66-72
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• 2008

RAPD analyses were performed from twenty-four populations of Persicaria thunbergii(Sieb. & Zucc.) H. Gross ex Nakai. The length of amplified DNA fragments ranged from 200 to 1,900bp. 184 scorable RAPD markers were found from PCR reactions with sixteen random oligoprimers. Based on the results, populations of Persicaria thunbergii were classified into disturbance streams of urban and rural streams as well as natural streams. And the populations from natural streams showed having higher genetic similarites than those from highly disturbed streams, Also, the heterogenetic differences between the populations from natural and disturbed areas could be represented the results of the stream environmental changes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.24-28
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• 2020

Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

• Journal of the Korean Data and Information Science Society
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• v.25 no.4
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• pp.737-743
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• 2014

This experiment was conducted to compare heterogeneity for the variance in dairy cattle population and to induce homogeneity of variance using 502,228 performance test records of dairy cattle. The estimates of heritability for milk yields, fat yields and protein yields were 0.28, 0.26 and 0.24, respectively and the estimate of average breeding value by birth year was lower in HV (heterogenous variance) model than in animal model, collectively. The average breeding values of milk yields, fat yields and protein yields for 545 sire bulls applicable to the criteria of interbull MACE programme were 453.54kg, 10.75kg and 14.33kg, respectively and when the heterogeneity was adjusted they were 432.06kg, 10.15kg and 13.40kg, respectively, which were lower in all milk traits collectively. In animal model, coefficients of phenotypic correlation between dataset I and II were 0.839 in milk yields, 0.821 in fat yields, and 0.837 in protein yields, while in HV model, they were 0.841 in milk yields, 0.820 in fat yields, and 0.836 in protein yields, showing similar results in 2 models. When compared using animal model and HV model, the regression coefficient for ratio of number of daughters by calving year of milk yields increased from 15.157 to 16.105 and that of fat yields increased from =0.227 to =0.196, but that of protein yields decreased from 0.630 to 0.586.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• The Journal of the Korean bone and joint tumor society
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• v.10 no.1
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• pp.50-55
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• 2004

Fibrodysplasia ossificans progressiva is a very rare genetic disorder, but is possible to diagnose with mass on neck or scalp in early neonate or child and accompanying characteristic congenital malformation of great toe. But because inappropriate treatment and complications from misdiagnosis may aggravate the progress of the disease, so the disorder require careful inspection for accurate diagnosis. We describe a case that was misdiagnosed properly and treated inappropriately and the natural history of the disease in adult.

• Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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• 2003.05a
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• pp.769-771
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• 2003

고분산성을 이루는 물질들이 석영(quartz)을 바탕물질로 하여 기계-화학적 반응 기술을 이용하여 제작하였다. 반응의 처리 조건과 이후의 응용에 따라서 기계-화학적 반응을 이용하여 제작한 물질은 자기 특성, 유전체 특성, 전기적 특성을 동시에 나타냈다. 부착성 복합물질의 특징을 고려하여 세그네토 마그네틱스(Segneto-magnetics)로 분류 제작된 자기-전기적 분말은 유전체재료 특성을 나타냈다. 특히, 석영 표면에 하나 또는 그 이상의 이질 화합물 층이 10∼50nm 두께로 합성되어, 자기ㆍ전기적 특성을 나타냈다.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.95-98
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• 2018

A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.