• 한방비만학회지
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• 제6권2호
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• pp.59-73
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• 2006

Objectives: This study was conducted to investigate the effects of Uncoupling protein (UCP) polymorphisms on weight loss. We analyzed associations between polymorphisms of UCP-2, 3 and changes in percentage of obesity phenotypes (Body mass index and percent body fat) after treatment. Materials and Methods: A total of 207 Korean women (BMI over 25) were recruited from the obesity clinic in Kirin Oriental Medical Hospital (Seoul, Korea). All patients were treated with a very low calorie diet and oriental medical therapy for one month. The effect of UCP polymorphisms on changes in obesity-phenotypes were analyzed. For the genotyping of a single nucleotide polymorphism (SNPs), genomic DNA from each subject was extracted from whole blood and genotyped using the TaqMan Method. Associations between changes in percentage of obesity phenotypes (BMI and percent body fat) and UCP polymorphisms were analyzed using age-adjusted general linear model. Results and Conclusions: In this study, AG, GG type of UCP-2 -866A>G, CC, CT type of UCP-2 +4787C>T, CG, GG type of UCP-3 +2564C>G, AG, GG type of UCP-3 +3106A>G, and TC, CC type of UCP-3 +4589T>C played a role as a resistance gene to weight loss.

• 대한치과교정학회지
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• 제51권5호
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• pp.337-345
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• 2021

Objective: To investigate the phenotypes and predominant skeletodental pattern in pre-adolescent patients with Pierre-Robin sequence (PRS). Methods: The samples consisted of 26 Korean pre-adolescent PRS patients (11 boys and 15 girls; mean age at the investigation, 9.20 years) treated at the Department of Orthodontics, Seoul National University Dental Hospital between 1998 and 2019. Dental phenotypes, oral manifestation, cephalometric variables, and associated anomalies were investigated and statistically analyzed. Results: Congenitally missing teeth (CMT) were found in 34.6% of the patients (n = 9/26, 20 teeth, 2.22 teeth per patient) with 55.5% (n = 5/9) exhibiting bilaterally symmetric missing pattern. The mandibular incisors were the most common CMT (n = 11/20). Predominant skeletodental patterns included Class II relationship (57.7%), posteriorly positioned maxilla (76.9%) and mandible (92.3%), hyper-divergent pattern (92.3%), high gonial angle (65.4%), small mandibular body length to anterior cranial base ratio (65.4%), linguoversion of the maxillary incisors (76.9%), and linguoversion of the mandibular incisors (80.8%). Incomplete cleft palate (CP) of hard palate with complete CP of soft palate (61.5%) was the most frequently observed, followed by complete CP of hard and soft palate (19.2%) and CP of soft palate (19.2%) (p < 0.05). However, CP severity did not show a significant correlation with any cephalometric variables except incisor mandibular plane angle (p < 0.05). Five craniofacial and 15 extra-craniofacial anomalies were observed (53.8% patients); this implicated the need of routine screening. Conclusions: The results might provide primary data for individualized diagnosis and treatment planning for pre-adolescent PRS patients despite a single institution-based data.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.85-93
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• 2022

Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. Materials and Methods: The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. Results: The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). Conclusion: We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제32권3호
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• pp.199-206
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• 2010

This study investigated the effects of strontium on osteoblastic phenotypes of cultured human periostealderived cells. Periosteal tissues were harvested from mandible during surgical extraction of lower impacted third molar. Periosteal-derived cells were introduced into cell culture. After passage 3, the periostealderived cells were further cultured for 28 days in an osteogenic induction DMEM medium supplemented with fetal bovine serum, ascorbic acid 2-phosphate, dexamethasone and at a density of $3{\times}10^4$ cells/well in a 6-well plate. In this culture medium, strontium at different concentrations (1, 5, 10, and 100 ${\mu}g$/mL) was added. The medium was changed every 3 days during the incubation period. We examined the cellular proliferation, histochemical detection and biochemical measurements of alkaline phosphatase (ALP), the RT-PCR analysis for ALP and osteocalcin, and von Kossa staining and calcium contents in the periostealderived cells. Cell proliferation was not associated with the addition of strontium in periosteal-derived cells. The ALP activity in the periosteal-derived cells was higher in 5, 10, and 100 ${\mu}g$/ml strontium-treated cells than in untreated cells at day 14 of culture. Among the strontium-treated cells, the ALP activity was appreciably higher in 100 ${\mu}g$/ml strontium-treated cells than in 5 and 10 ${\mu}g$/ml strontium-treated cells. The levels of ALP and osteocalcin mRNA in the periosteal-derived cells was also higher in strontium-treated cells than in untreated cells at day 14 of culture. Their levels were increased in a dose-dependent manner. Von Kossa-positive mineralization nodules were strongly observed in the 1 ${\mu}g$/ml strontium-treated cells at day 21 and 28 of culture. The calcium content in the periosteal-derived cells was also higher in 1 ${\mu}g$/ml strontium-treated cells at day 28 of culture. These results suggest that low concentration of strontium stimulates the osteoblastic phenotypes of more differentiated periosteal-derived cells, whereas high concentration of strontium stimulates the osteoblastic phenotypes of less differentiated periosteal-derived cells. The effects of strontium on osteoblastic phenotypes of periosteal-derived cells appear to be associated with differentiation-extent.

• 한국산림과학회지
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• 제68권1호
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• pp.32-36
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• 1985

소나무의 acid phosphatase (ACP), alcohol dehydrogenase (ADH)와 catalase (CAT) 동위효소(同位酵素) 유전양식(遺傳樣式)을 구명(究明)하기 위하여 배유조직(胚乳組織)을 수평식 감자전분 전기영동법에 의하여 분석(分析)하였다. ACT 동위효소(同位酵素)는 최소한 3~4개의 지역(地域)으로 분리(分離)되었으나 분리가 잘된 ACP-A 지역(地域)의 동위효소(同位酵素)만이 분석(分析)되었다. ACP-A 지역(地域)에서 관찰된 5개(A1-A5)의 동위효소(同位酵素) 표현형(表現型)들은 공히 Mendel의 분리비(分離比)를 보여 이들이 각각 ACP-A 유전자좌(遺傳子座)에 존재(存在)하는 5개의 대립유전자(對立遺傳子)에 의해 지배받고 있음을 알 수 있었다. 2개의 ADH 지역(地域)이 (ADH-A와 ADH-B) 분리(分離)되었으나, 양극(陽極)으로의 이동(移動)속도가 빠른 ADH-A 지역(地域)에서는 분석(分析)에 사용된 재료(材料)에서 변이(變異)가 발견(發見)되지 않았다. ADH-B 지역(地域)에서는 3개의 동위효소(同位酵素) 표현형(表現型) (B1-B3)들이 관찰되었고 이들이 공히 1:1의 분리비를 보여 ADH-B 유전자좌(遺傳子座)에 존재하는 3개의 대립유전자(對立遺傳子)에 의해 지배됨이 추정되었다. 수개의 band로 구성된 5개의 동위효소(同位酵素) 표현형(表現型)이 CAT에서 관찰되었으며, 이형접합성(異型接合性)인 모수(母樹)에서 이들 표현형간(表現型間)의 분리(分離)가 1:1 분리비(分離比)로부터 편차(偏差)를 보이지 않았으므로, 소나무에 있어서 CAT 동위효소(同位酵素)는 5개의 대립유전자(對立遺傳子)가 존재(存在)하는 하나의 유전자좌(遺傳子座)에 의해 지배되는 것으로 추정하였다.

• 한국균학회지
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• 제21권4호
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• pp.293-300
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• 1993

Enzyme AAT, GmDH, ME, GPI, LDH 그리고 IDH에 대해 각각 아홉, 일곱. 넷, 아홉, 일곱 그리고 네개의 서로 다른 phenotype이 관찰되었다. Sugarcane field에서 분기한 종명이 밝혀지지 않은 여섯개의 sterile isolate 모두 여섯개의 enzyme에 대해 동일한 위치에 band를 형성하였다. 이 phenotype들은 이미 밝혀진 Pythium species와는 다른 위치에서 band를 형성하였다. 종명이 밝혀지지 않은 Pythium isolate중 isolate 145와 299는 여섯개의 enzyme에 대해서 동일한 위치에서 band가 형성되었고, 다른 isolate들은 다른 위치에서 band를 형성하였다. 다섯개의 Pythium heterothallicum isolate들은 IDH를 제외한 모든 enzyme에 대해서 동일한 위치에서 band를 형성하였다. 두개 그리고 세개의 P. torulosum isolate가 AAT, GmDH 그리고 ME와 GPI,LDH 그리고 IDH 에 대해 각각 동일한 위치에 band를 형성하였다. 한개의 P. spinosum 과 P. irregulare isolate 각각이 enzyme AAT, GmDH 그리고 GPI에 대해 동일한 위치에 band를 형성하였다. 결론적으로, sterile Pythium isolate 들은 intraspecies level에서는 similarity 가 100%였지만, P. heterothallicum 그리고 Pythium spinosum과는 무관함이 밝혀졌고 isolate 306 을 제외한 다른 Pythium species들과는 전반적으로 낮은 상관성을 나타내었다 . 서로 다른 species간의 상관성은 몇몇 경우를 제외하고는 전반적으로 매우 낮았다.

• 한국응용곤충학회지
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• 제39권2호
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• pp.123-129
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• 2000

국내 과채류 재배단지의 뿌리혹선충 발생에 관한 조사를 위해 1997년부터 1999년까지 경북 성주군을 중심으로 경기 여주군, 경남 함안군, 충북 청원군 등에서 과채류재배지의 토양을 채집하여 식물기생선충 종류와 밀도 조사, 뿌리혹선충 암컷의 효소표현형에 의한 종 동정을 실시하였다. 경북 성주군의 185개 참외재배 포장 중 99개 포장(53.5%)에서 뿌리혹선충이 검출되었고 나선선충류(Helocotylenchus spp.)는 7개, 둥근꼬리선충류(Aphelechus spp.)는 43개, 환선충류(Criconematid)는 26개 포장에서 검출되었다. 뿌리혹선충 암컷의 Malate dehydrogenase 및 Esterase 등 2가지 효소표현형을 이용하여 한국에 분포하는 주요 4종의 동정이 가능하였다. 효소 표현형을 이용하여 성주군 선남면에서 채집된 13개 시료 중 당콩뿌리혹선충으로 동정된 것이 6포장, 고구마뿌리혹선충 5포장이었으며 2개 포장은 두 종의 혼재하는 것으로 나타났다. 성주군 초전면의 6개 포장 시료 중 4개가 땅콩뿌리혹선충, 1개가 고구마뿌리혹선충으로 동정되었으며 1포장의 뿌리혹선충은 효소표현형이 미동정 종으로 나타났다. 경기도 여주군의 참외재배단지에서는 14개 조사대상 중 당근뿌리혹선충이 11개 포장, 땅콩뿌리혹선충이 3개포장으로 당근뿌리혹선충이 우점종인 것으로 나타났다.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2005년도 춘계 국제심포지엄 및 학술대회
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• pp.160-160
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• 2005

• 한국환경성돌연변이발암원학회:학술대회논문집
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• 한국환경성돌연변이발암원학회 2003년도 추계학술대회
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• pp.141-141
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• 2003

• 한국동물학회:학술대회논문집
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• 한국동물학회 1997년도 한국생물과학협회 학술발표대회
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• pp.267.1-267
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• 1997

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