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A case of Hyper-IgE syndrome with a mutation of the STAT3 gene (STAT3유전자 돌연변이 검사로 확진된 고면역글로불린E 증후군 1례)

  • Kang, Ji-Man;Suh, Jung-Min;Kim, Ji-Hyun;Kim, Hee-Jin;Kim, Yae-Jean;Lee, Hun-Seok;Shin, Young-Kee;Ahn, Kang-Mo;Lee, Sang-Il
    • Clinical and Experimental Pediatrics
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    • v.53 no.4
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    • pp.592-597
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    • 2010
  • Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$ $aureus$) and $Pseudomonas$ $aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.

Absolute Renal $^{99m}Tc-DMSA$ Uptake and Renal Scan in Children with Vesicoureteral Reflux (방광요관역류를 가진 소아의 DMSA 스캔과 절대 신섭취율의 평가)

  • Bae, Sang-Kyun;Lee, Dong-Soo;Yang, Hyung-In;Choi, Chang-Woon;Chung, June-Key;Lee, Myung-Chul;Koh, Chang-Soon;Choi, Yong;Kim, Gwang-Myung;Choi, Hwang;Yeon, Kyung-Mo
    • The Korean Journal of Nuclear Medicine
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    • v.26 no.2
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    • pp.327-332
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    • 1992
  • $^{99m}Tc-dimercaptosuccinic$ acid (DMSA) 주사후 일정시간에 측정한 절대적 신섭취량은 기능이 살아있는 신피질량과 관계있다. 소아의 신기능은 출생후 계속 성숙되어 생후 약 $1\sim2$년에 성인의 기능에 도달하는데 DMSA섭취도 성인과는 다른 양상을 보일 것으로 기대되며 신질환에서 절대적 신섭취율의 평가는 연령을 고려해야 할 것이다. 저자들은 DMSA 스캔을 시행한 소아 환자를 대상으로 스캔상 피질 결손이 없으며 양측신의 섭취율이 비슷하고 혈중 크레아티닌치가 정상인 경우를 대조군으로 하여 연령별 DMSA의 절대적 신섭취율을 구하였고 방광요관역류를 가진 환아를 대상으로 DMSA스캔을 시행하고 신섭취율을 조사하였다. 1) 대조군은 모두 65명으로 좌우측 신섭취율의 유의한 차이는 없었으며 연령에 따라 2세경에 플라토에 도달하였는데 한쪽 신장의 평균섭취율은 3개월 미만이 $14.5{\pm}3.1%$ ID, 3개월에서 6개월 미만이 $17.2{\pm}2.1%$ID, 6개월에서 1년 미만이 $18.4{\pm}1.3%$ID, 1년에서 1년6개월 미만이 $19.3{\pm}1.1%$ID, 1년 6개월에서 2년 미만이 $21.9{\pm}2.0%$ID, 2세이상 15세이하가 $20.1{\pm}0.6%$ID였으며 전체 평균섭취율은 $19.4{\pm}0.5%$ID (injected dose, $mean{\pm}S.E.$)였다. 2) 방광요관역류를 가진 환아는 55명 (일측성 56명, 양측성 29명)으로 109신장을 대상으로 하였다. 방광요관역류의 정도와 피질결손의 수와는 대체로 비례관계가 있었으나 방광요관역류가 없으면서 피질결손이 있는 경우가 25신장중 2예 (8%)였으며, 방광요관역류가 있는 84신장중 27예 (32.1%), 이중에서 방광요관역류가 3도 이상인 62신장중 13예 (21%)에서는 피질결손이 없었다. 3) 이환신의 DMSA 섭취율을 연령에 따른 대조군의 섭취율에 대한 비(섭취율비)로 나타내면 한쪽에 역류가 있을 때 이환신의 경우 $0.55{\pm}0.06$, 정상신의 경우 $1.34{\pm}0.05$이었으며, 양쪽에 역류가 있을 때는 평균 $0.82{\pm}0.08$ $(mean{\pm}S.E.)$ 이었다. 4) 피질결손이 있는 신장의 절대 DMSA 신섭취율은 감소되어 있었고 상대측 신장의 섭취율은 피질 결손이 있더라도 대상적인 증가의 경향을 보였다. 이상의 결과로 소아에서 DMSA 절대적 신섭취율의 연령에 따른 변화를 알 수 있었으며 방광요관역류의 정도와 피질결손의 정도가 반드시 비례하지만은 않아서 시간경과에 따른 추후 검사가 필요하리라 생각된다. 또한 방광요관역류가 있는 환아에서 DMSA 섭취율로 신기능을 평가할 때, 특히 영유아에서 연령에 따른 고려가 있어야 할 것으로 보인다.

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Influence of Environmental Living Standards on Helicobacter pylori Infection in Korean Elementary School Children (서울 지역 초등학생의 생활환경과 Helicobacter pylori 양성률)

  • Kim, Je-Woo;Kim, Hyo-Shin;Chung, Ki-Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.4 no.1
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    • pp.10-17
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    • 2001
  • Purpose: We measured anti-H. pylori IgG in Korean elementary school children living in Shinchon area of Seoul, Korea to evaluate the influence of environmental living standards on H. pylori infection. Methods: IgG antibodies to H. pylori were measured in plasma using a commercial ELISA kit (GAP IgG Helicobacter pylori, Bio-Rad Laboratories Inc., Hercules, CA, USA). Information on environmental status such as place of birth, parental income, type of housing, number of persons in the household, parents' occupation, family history of peptic ulcer disease and gastric cancer was obtained. Statistical analysis was done by Chi-square and logistic regression test using SPSS $7.0^{TM}$ for Windows. Results: Study subjects consisted of 571 children, and the age distribution ranged from 6.0 to 13.6 years with a mean of $9.6{\pm}1.8$ years. Male-to-female ratio was 1.1:1. The seropositive rates of H. pylori infection ranged from 10.4% in children aged 6 years to 30.9% in 12 year-old group, overall 16.8%. The prevalence of H. pylori infection progressively increased with age, but there was no significant difference in seropositive rates among children in different age groups (p=0.06). Seropositive rates of anti-H. pylori IgG on the basis of gender, place of birth, parental income, type of housing, parents' occupation, family history of peptic ulcer disease and gastric cancer showed no statistically significant difference. Interestingly, however, seropositive rate of anti-H. pylori IgG showed statistical significance in relation to number of persons in the household (p=0.003; Odds ratio 1.50 by logistic regression test). Conclusion: These results suggest that number of persons in the household is the most important factor among environmental living standards, and that risk of H. pylori infection increases by increment of 1.5 times as the number of persons in the household increases by one.

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The Effects of the High Pressure Boiled Extracts (HPBE) of the Ogol Chicken with Herbs on the Hormones, Cytokine, Specific Antibody of Serum in the Rat (오골계 증탕액 급여가 흰쥐의 혈중 호르몬, Cytokine 및 특이항체에 미치는 영향)

  • Chae Hyun-Seok;Ahn Chong-Nam;Yoo Young-Mo;Ham Jun-Sang;Lee Jong-Moon;Yoon Sang-Ki;Choi Yang-Il
    • Food Science of Animal Resources
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    • v.24 no.3
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    • pp.283-292
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    • 2004
  • This study was conducted to investigate feeding effects of the high pressure boiled extracts (HPBE) of the Ogol chicken with herbs on glucose, hormones and immunological response (cytokine, specific antibody) of serum in the rat which fed either with normal feed (T$_1$), normal feed + herb HPBE (T$_2$), normal feed + Ogol chicken HPBE (T$_3$), normal feed + mixture of cross-bred Ogol chicken HPBE (T$_4$) hydrolyzed with Flavourzyme 0.1% for 35 days. During experimental period, there was a weak trend to have a higher glucose content for the T$_4$ group with 102.27${\pm}$5.95 mg/dL, but it was not significantly higher than other treatments. For insulin level, T$_1$ group showed numerically a slightly higher level with 6.79${\pm}$4.64 ${\mu}$IU/mL, but the difference was not significant in statistic term due likely to a large variation in comparison with other treatments. The treatments did not significantly alter testosterone level in rat plasma with 1.09, 1.46, 0.98, 1.13 ng/mL in T$_1$, T$_2$, T$_3$ and T$_4$, respectively. T$_4$ treatment increased the aldosterone level to a significantly (p<0.05) higher level (273.33 ng/dL) than other treatments. The extract treated rat showed a tendency in the cortisol level of lower levels than the control group, particularly, it was significantly (p<0.05) lower in T$_3$ group than other groups. T$_3$ and T$_4$ groups showed higher levels for interlukin-4 (IL-4) and anti-BSA IgG in immune cells and plasma. T$_2$, T$_3$ and T$_4$ treatments showed a slightly higher levels in v-interferon (INF-r) than the control, with a greater effect for T4 treatments. These results suggested that HPBE of the cross-bred Ogol chicken hydrolyzed with Flavourzyme increased immunological activity and decreased the concentration of cortisol and aldosterone hormones.

Vegetation Structure and Site Environment of Natural Habitat of an Endangered Plant, Viola websteri (멸종위기 식물 왕제비꽃 자생지의 식생구조 및 입지환경)

  • Song, Jae-Mo;Lee, Gi-Yeoung;Kim, Nam-Young;Yi, Jae-Seon
    • Journal of Korean Society of Forest Science
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    • v.99 no.3
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    • pp.267-276
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    • 2010
  • This study was performed to obtain basic data about vegetation structure and site environment of rare and endangered plant, viola websteri in five natural habitats. The dominant species of Hongcheon habitat were Pyrus pyrifolia (tree layer), Morus bombycis (subtree layer), Pyrus pyrifolia (shrub layer) and Isodon inflexus (herb layer). Mt. Yeonin habitat were dominated by Quercus mongolica (tree layer), Morus bombycis (subtree layer), Philadelphus schrenckii (shrub layer) and Viola websteri (herb layer). Mt. Yumyung habitat were dominated by Cornus controversa (tree layer), Morus bombycis (subtree layer), Fraxinus rhynchophylla (shrub layer) and Adenocaulon himalaicum (herb layer). Mt. Daebu habitat were dominated by Acer mono (tree layer), Staphylea bumalda (subtree layer), Staphylea bumalda(shrub layer) and Dryopteris crassirhizoma (herb layer). And the dominant species of Mt. Worak habitat were Larix leptolepis (tree layer), Fraxinus rhynchophylla (subtree layer), Alangium platanifolium var. macrophylum (shrub layer) and Adenocaulon himalaicum (herb layer). It was found out that the average acidity of soil pH was 5.23; 0.30ds/m for electron conductivity; 12.6% for organic matter content; 0.68% for total nitrogen; 21.66 ppm for available phosphorous; and 23.45 cmol(+)/kg for CEC. Interchangeable cation was decreased in order of $Ca^{2+}$ > $Mg^{2+}$ > $K^{2+}$. Viola websteri had positive association with Polygonatum odoratum var. pluriflorum and Geranium thunbergii but negative association with Poa sphondylodes. Species diversity index(H'), maximum Species diversity index (H' max), evenness(J') and dominance (1-J'), of investigated sites ranged 0.6816 (Mt. Worak)~0.9656 (Mt. Daebu), 1.0000 (Mt. Yeonin)~1.3010 (Hongcheon, Gangwon), 0.5330 (Mt. Worak)~0.8947 (Mt. Daebu) and 0.1053 (Mt. Daebu)~0.4670 (Mt. Worak) in woody layer and 1.0414 (Mt. Yumyung)~1.3295 (Mt. Worak), 1.4314 (Mt. Yumyung)~1.6435 (Mt. Daebu), 0.6984 (Hongcheon, Gangwon)~0.8356 (Mt. Worak) and 0.1644 (Mt. Worak)~0.3016 (Hongcheon, Gangwon) in herb layer, respectively.

THE EFFECT OF BMP REGULATED SMAD PROTEIN ON ALKALINE PHOSPHATASE GENE EXPRESSION (Smad에 의한 alkaline phosphatase 유전자의 발현 조절기전)

  • Kim, Nan-Jin;Ryoo, Hyun-Mo;Kim, Hyun-Jung;Kim, Young-Jin;Nam, Soon-Hyeun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.28 no.2
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    • pp.238-246
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    • 2001
  • Bone morphogenetic proteins(BMPs), members of the transforming growth factor $\beta$(TGF-$\beta$) superfamily were first identified as the factors that induce ectopic bone formation in vivo, when implanted into muscular tissue. Especially BMP-2 inhibits terminal differentiation of C2C12 myoblasts and converts them into osteoblast lineage cells. In the molecular mechanism of the signal transduction of TGF-$\beta$ and related factors, intracellular signaling proteins were identified as Smad. In previous study, it has been reported that Smad 1 and Smad 5, which belong to the R-Smad family mediate BMP signaling, were involved in the induction of osteoblast differentiation in C2C12 cells. To understnad the role of Smads involved in osteogenic transdifferentiation in C2C12 cell, in present study, after we stably transfected C2C12 cells with each. Smad(Smad 1,Smad 5) expression vector, cultured for 3 days and stained for alkaline phophatase activity. ALP activity positive cells appeared in the Smad 1, Smad 5 stably transfected cell even in the abscence of BMP. After transiently co-transfected C2C12 cells with each Smad expression vector and ALP promoter, it was examined that Smad 1 and Smad 5 expression vector had increased about 2 fold ALP promoter activity in the abscence of BMP. These result suggested that both Smad 1 and Smad 5 were involved in the intracellular BMP signals which induce osteoblast differentiation in C2C12 cells. The effect of BMP on C2C12 cells with Smad 1, Smad 5 transfected were studied by using northern blot analysis. the treatment of BMP upregulated ALP mRNA level in three groups, especially upregulation of ALP was larger in Smad 1, Smad 5 transfected cell than control group. Pretreatment with cycloheximide($10{\mu}g/ml$), a protein synthesis inhibitor resulted in blocking the ALP gene expression even in BMP(100ng/ml) treated cell. These results suggested that Smad increased the level of ALP mRNA via the synthesis of a certain transcriptional regulatory protein.

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Gemcitabine Plus Vinorelbine as Second-line Chemotherapy of the Patients of Previously Treated Non-small Cell lung Cancer: Phase II Trial (비소세포 폐암 환자의 이차 치료로서 Gemcitabine과 Vinorelbine 혼합 요법의 효과)

  • Jang, Pil Soon;Kang, Hyun Mo;Lee, Jeong Eun;Kwon, Seon Jung;An, Jin Young;Lee, Yun Sun;Jeong, Sung Soo;Kim, Ju Ock;Kim, Sun Young
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.4
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    • pp.344-351
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    • 2005
  • Background : Both gemcitabine and vinorelbine are effective anticancer drugs with mild toxicity on non-small cell lung cancer, and monotherapy of these drugs are effective as a second-line chemotherapy. The aim of this trial was to assess the response and toxicity of a combination of gemcitabine and vinorelbine in patients of previously treated for non-small cell lung cancer. Materials and Methods : 24 patients, initial stage III A/B,IV and previously treated with platinium and taxane based regimens, were enrolled from June 2000 to March 2004. The regimens consisted of vinorelbine $25mg/m^2$ followed by an infusion of gemcitabine $1000mg/m^2$ on day 1 and day 8 every three weeks. This course was repeated more than twice. Results : Twenty-four patients were analyzed for the response, survival rate, and toxicities. The overall response was 17% with a complete remission rate of 4%. The median time-to progression (TTP) was 3.1 months (95%, CI 1-10months), and the survival time was 8.2 months (95%, CI 1-23 months). The grade 3/4 toxicities encountered were neutropenia (12.5%), anemia (0%), thrombocytopenia (0%). Non-hematological 3/4 toxicities were not observed. Conclusion : A combination of gemcitabine and vinorelbine in patients previously treated for non-small cell lung cancer provides a relatively good response rate, and a low toxicity profile. However, further study will be needed to confirm its effectiveness.

EXPRESSION PATTERN OF RUNX2 IN MURINE TOOTH DEVELOPMENT (Mouse의 치아 발육시 Runx2의 발현 양상)

  • Kim, Tae-Wan;Ryoo, Hyun-Mo;Nam, Soon-Hyeun;Kim, Young-Jin;Kim, Hyun-Jung
    • Journal of the korean academy of Pediatric Dentistry
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    • v.31 no.4
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    • pp.651-658
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    • 2004
  • Runx2 is a transcription factor in homologous with Drosophila runt gene and it is essential for bone formation during embryogenesis and a critical gene for osteoblast differentiation and osteoblast function. Runx2-haploinsufficency causes cleidocranial dysplasia (CCD). CCD is an autosomal-dominant inherited disorder characterized by hypoplastic clevicle and delayed ossification in fontanelles and wormian bones. Dental defects are possibly shown to CCD patients : multiple supernumerary teeth, irregular and compressed permanent tooth crowns, hypoplastic and hypomineralized defects in enamel and dentin, an excess of epithelial root remnants, the absence of cellular cementum, and abnormally shaped roots. In addition, delayed eruption of the secondary dentition is a constant finding. The aim of this study is to evaluate the role of Runx2 in the tooth development and eruption through analyzing the expression pattern of Runx2 by in situ hybridization during crown (late bell stage) and root formation of tooth, using postnatal day 1, 4, 7, 14 and 21 mice mandibular molar teeth. mRNA of Runx2-full length is expressed in dental follicle and surrounding tissue at postnatal day1 and 4. At postnatal day 7, it is expressed in ameloblasts of occlusal surface of enamel and bone area surrounding the tooth. In comparison with previous stage, at postnatal day 14, it is expressed in ameloblasts of proximal surface of enamel. At postnatal day 21 it's expression is observed only in bone area. mRNA of Runx2-typeII is not expressed. At postnatal day 1 and 7. At postnatal day 14 and 21, it's expression is observed in the bone area. In this study, we suggest that Runx2 have a relation of ameloblasts differentiation and an important role to tooth eruption made by dental follicle during intraosseous eruption stage. Also we can confirm that Runx2 has a role to bone formation.

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Effect of the Climatic Condition on the Growth Characteristic of Domestic Corn Hybrids in Alpine Region (고랭지에서 기후조건이 국내육성 옥수수 품종의 생육특성에 미치는 영향)

  • Kim, Meing-Jooung;Lee, Seung-Ho;Chang, Sun-Sik;Kim, Tae-Il;Choi, Sun-Ho;Cho, Won-Mo;Hong, Seong-Gu;Lee, Sang-Rak;Kim, Myeong-Hwa
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.31 no.4
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    • pp.371-382
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    • 2011
  • The aim of the present study was to investigate the relationship between climates, growth characteristic and yield of silage corn at Hanwoo Experiment Station, National Institute of Animal Science, Daegwallyeong in Gangwon Province located at altitude of 760 m, from 2009 to 2010. The mean minimum temperature was $12.29^{\circ}C$ from seeding to harvest in 2009, $14.30^{\circ}C$ in 2010, the mean maximum temperature was $21.66^{\circ}C$, $23.48^{\circ}C$, respectively. The mean temperature was $16.85^{\circ}C$ in 2009 and $18.55^{\circ}C$ in 2010, respectively. Duration of sunshine was 711.3 hours in 2009 and 663.8 hours in 2010, and precipitation was 893.8 mm in 2009 and 752.1 mm in 2010, respectively. In 2009, for all Kwangpyeongok, Gangdaok, Cheonganok, Cheongsaok, Pyeonganok, the early growth was good with 1.2, while in 2010 the growth for Pyeonganok was good with 1.3 comparing to others, which showed worse growth than in the previous year with 2.4~3.0. There was significant difference in the ear height between 2009 and 2010, showing mean value of 85.8 cm and 105 cm for all the species in 2009 and in 2010, respectively (p<0.001). In 2010, stem diameter for all the species were larger, and there was significant difference in mean value of the diameter between 2009 and 2010 (p<0.001). There was significant difference in the plant height and ear height between 2009 and 2010, showing 200 cm and 258 cm in 2009 and 2010, respectively (p<0.001). There was significant difference in the average days to silk, showing 103.8 days in 2009, 90 days in 2010, respectively (p<0.001). There was no lodging or disease-insect damage in all hybrid silage corn in both 2009 and 2010. The mean ear rates were 23.4% in 2009, but almost doubled, 52.1%, in 2010. There was significant difference in fresh yield between the two years, showing 54,611 kg/ha in 2009 and 78,733 kg/ha in 2010, respectively (p<0.001). Dry matter yields were higher in 2010 than in 2009. TDN yields of Gangdaok and Cheonganok were higher in 2009, whereas that of Cheongsaok and Pyeonganok were higher in 2010. Crude protein contents were higher in 2010 than in 2009 for all the species.

Seed Dormancy Type and Germination Characteristics in Tiarella polyphylla D. Don Native to Korea (한반도 자생식물 헐떡이풀 종자의 휴면유형과 발아특성)

  • Choi, Han;Lee, Seung Youn;Rhie, Yong Ha;Lee, Jeong Ho;Kim, Sang Yong;Lee, Ki Cheol
    • Korean Journal of Plant Resources
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    • v.31 no.4
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    • pp.363-371
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    • 2018
  • Tiarella polyphylla D. Don is a native plant distributed only in Ulleung Island in Korea and has been traditionally used for medicinal purposes, although it is also used ornamentally. This study was conducted to determine the requirements for dormancy break and germination and to classify the type of seed dormancy. The experiments were performed with cold stratification (0 or 12 weeks at $5^{\circ}C$), warm stratification (0, 4, 8, or 12 weeks at $23^{\circ}C$, followed by 8 weeks at $5^{\circ}C$, and then incubation at $23^{\circ}C$), and $GA_3$ treatments (0, 10, 100, or 1000 mg/L). The treated seeds were incubated on aseptic media at room chamber ($23^{\circ}C$, a 16h photoperiod of fluorescent lamps with $40{\mu}mol{\cdot}m^{-2}{\cdot}s^{-1}$). The seeds were dispersed in nature as underdeveloped embryos with no physical barrier to absorb water to prevent water absorption. However, the seeds did not germinate for 30 days after sowing without any pre-treatments. Thus, the seeds had morphological dormancy (MD) and physiological dormancy (PD). The final germination percentage following cold stratification (0 or 12 weeks) was 66.7% and 45.6%, respectively. The cold stratification delayed seed germination by about 3 weeks. In the warm stratification experiment (0, 4, 8, or 12 weeks), the final germination percentage was 21.1%, 27.8%, 41.1%, and 57.8%, respectively, 20 weeks after sowing. The embryos of the T. polyphylla seed grew in relatively warm temperatures ($23^{\circ}C$). $GA_3$ application overcame seed dormancy and promoted germination. Following $GA_3$ treatment (0, 10, 100, or 1000 mg/L), the final germination percentage was 33.3%, 45.0%, 42.5%, and 72.5%, respectively. These results suggest that the T. polyphylla seeds had non-deep simple morphophysiological dormancy (MPD) and $GA_3$ treatment could be used as a substitute for warm stratification for breaking seed dormancy. To our knowledge, this is the first report of seed dormancy characteristics of the genus Tiarella native to Korea.