• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.58-62
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• 2022

Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.

• Journal of Science Education
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• v.47 no.2
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• pp.192-210
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• 2023

This study was intended to develop the plant molecular biology experimental program using Rapid-cycling Brassica rapa (RcBr) based on the teaching steps and teaching methods of the cognitive apprenticeship model and to determine its application effects. In order to improve a subject's cognitive function and expertise on molecular biology experiments, two themes composed of a total 8 class sessions were selected: 'Identification of DFR gene in purple RcBr and non-purple RcBr' and 'Identification of RcBr's genetic polymorphism site using the DNA profiling method'. Research subjects were 18 pre-service teaching majors in biology education of H University in Chungbuk, Korea. The effectiveness of the developed program was verified by analyzing the enhancement of 'cognitive function' related to the use of molecular biology knowledge and technology, and the enhancement of 'domain-general metacognitive abilities.' The effect of the developed program was also determined by analyzing the task flow diagram provided. The developed program was effective in improving the cognitive functions of the pre-service teachers on the use of knowledge and technology of molecular biology experiments. It was especially effective to improve the higher cognitive function of pre-service teachers who did not have the previous experience. The developed program also showed a significant improvement in the task of metacognitive knowledge and in the planning, checking, and evaluation of metacognitive regulation, which are sub-elements of domain-general metacognitive abilities. It was found that the developed program's self-test activity could help the pre-service teachers to improve their metacognitive regulation. Therefore, this developed program turned out to be helpful for pre-service teachers to develop core competencies needed for molecular biology experimental classes. If the teaching and learning materials of the developed program could be reconstructed and applied to in-service teachers or high school students, it would be expected to improve their metacognitive abilities.

• Journal of Korean Society of Forest Science
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• v.112 no.2
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• pp.157-172
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• 2023

Controlled pollination (CP) is an important method in tree breeding programs because CP quickly generates desirable genotypes and rapidly maximizes genetic gains. However, few studies have evaluated the efficiency and success rate of CP in the breeding program of Pinus densiflora. To evaluate CP and the management of control pollinated progenies, we used 159 individuals in CB2 × KW40 or KW40 × CB2 populations that were established in 2015. After genotyping microsatellite loci, we estimated whether the number of primers was sufficient or not. Then, we performed pedigree analysis. The result showed that the number of primers was sufficient. By pedigree analysis, we found out that 60 of 159 individuals had been generated by the mating between CB2 and KW40. In the maternity analysis, there was evidence to indicate the possibility of management problems. Therefore, we excluded 54 individuals and repeated the pedigree analysis. In the second analysis, 47 of 105 individuals were generated by the mating between CB2 and KW40. To increase the efficiency of CP in tree breeding programs, several precautions are required. It is necessary to identify the exact clone names of the mother and father trees. In addition, CP processes should be performed properly, including deciding on the schedule of CP and the isolation of female strobili or flowers. Finally, the monitoring of hybrid progenies management after mating is important. Molecular markers should be used to identify the clone names of the mother and father trees and for monitoring post hoc management. This study provides a reference for tree breeding programs for the future control pollination of pine species.

• Korean Journal of Plant Resources
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• v.36 no.4
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• pp.413-434
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• 2023

Sesame (Sesamum indicum L.) is an ancient oilseed crop, which is usually cultivated for its seeds. Sesame breeding aims to achieve high seed yield and quality, along with resistance to biotic or abiotic stresses. It is estimated that sesame is originated from Asia or Africa continent. In this study, we characterized 10 agronomic traits and evaluated lignan contents in 165 sesame germplasm originated from Asia or Africa, to select high-yield or high-lignan content accessions. Sesame germplasm showed diverse phenotypes and highly variable lignan contents (sesamin: 0.5-12.6 mg/g, sesamolin: 0.1-3.5 mg/g, lignan: 1.1-16.1 mg/g). Based on originated continent, there are significant difference in agronomic traits, but no in lignan content. Correlation analysis revealed that yield-related agronomic traits were negatively related with lignan contents. Also, PCA analysis showed that most agronomic traits and lignan contents were principal components explaining diversity of whole sesame germplasm. Sesame germplasm was clustered into three groups based on agronomic traits and lignan contents. Finally, we selected high-yield (IT29416, IT167042, K276848, K276849) and high-lignan candidate accessions (IT169254, IT170031, IT169250, IT154876, IT170034), respectively. These accessions are expected to be valuable resources for breeding of high-yield and high-lignan contents functional cultivars.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.68 no.4
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• pp.304-312
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• 2023

Plant breeding is a time-consuming process, mainly due to the limited annual generational advancement. A speed breeding system, using LED light sources, has been applied to accelerate generational progression in various crops. However, detailed protocols applicable to soybeans are still insufficient. In this study, we report the optimized protocols for a speed breeding system comprising 12 soybean varieties with various maturity ecotypes. We investigated the effects of two light qualities (RGB ratio), three levels of light intensity (PPFD), and two soil conditions on the flowering time and development of soybeans. Our results showed that an increase in the red wavelength of the light spectrum led to a delay in flowering time. Furthermore, as light intensity increased, flowering time, average internode length, and plant height decreased, while the number of nodes, branches, and pods increased. When compared to agronomic soil, horticultural soil resulted in an increase of more than 50% in the number of nodes, branches, and pods. Consequently, the optimal conditions were determined as follows: a 10-hour short-day photoperiod, an equal RGB ratio (1:1:1), light intensity exceeding 1,300 PPFD, and the use of horticultural soil. Under these conditions, the average flowering time was found to be 27.3±2.48 days, with an average seed yield of 7.9±2.67. Thus, the speed breeding systems reduced the flowering time by more than 40 days, compared to the average flowering time of Korean soybean resources (approximately 70 days). By using a controlled growth chamber that is unaffected by external environmental conditions, up to 6 generations can be achieved per year. The use of LED illumination and streamlined facilities further contributes to cost savings. This study highlights the substantial potential of integrating modern crop breeding techniques, such as digital breeding and genetic editing, with generational shortening systems to accelerate crop improvement.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)