• Molecules and Cells
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• 제23권2호
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• pp.246-251
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• 2007

Osteoporosis is a common metabolic bone disease characterized by low bone mineral density (BMD) with an increased risk of fracture. Low bone mass results from an imbalance between bone formation by osteoblasts and bone resorption by osteoclasts. Microphthalmia-associated transcription factor (MITF) plays a critical role in osteoclast development and thus is an important candidate gene affecting bone turnover and BMD. In order to investigate the genetic effects of MITF variations on osteoporosis, we directly sequenced the MITF gene in 24 Koreans, and identified fifteen sequence variants. Two polymorphisms (+227719C > T and +228953A > G) were selected based on their allele frequencies, and then genotyped in a larger number of postmenopausal women (n = 560). Areal BMD ($g/cm^2$) of the anterior-posterior lumbar spine and the non-dominant proximal femur was measured by dual-energy X-ray absorptiometry. We found that the MITF + 227719C > T polymorphism was significantly associated with low BMD of the trochanter (p = 0.005-0.006) and total femur (p = 0.02-0.03) (codominant and dominant models), while there was no association with BMD of the lumbar spine. The MITF+228953A > G polymorphism was also associated with low BMD of the femoral shaft (p = 0.05) in the recessive model. Haplotype analysis showed that haplotype 3 of the MITF gene (MITF-ht3) was associated with low BMD of the trochanter (p = 0.03-0.05) and total femur (p = 0.05) (dominant and codominant models). Our results suggest that MITF variants may play a role in the decreased BMD of the proximal femur in postmenopausal women.

• 한국동물학회지
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• 제33권1호
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• pp.6-11
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• 1990

본 연구는 김포 노랑 초파리 자연집단의 제 2 염색체에 보유되어 있는 유해유전자를 분석하여 집단의 유전적 구조의 일단을 밝히고자 하였다. 실험에 사용된 수컷 초파리는 1974년가 1981-1987년 까지 매년 9월말경에 채집하여 사용하였다. 유해유전자의 빈도는 1987년 41.48%로 가장 높았으며 8년간에 대한 유의성검정을 실시한 결과 매우 높은 유의성을 나타냈다. Lethal gene의 동좌율은 1981년에 1.30%로 가장 낮았고 1974년에 5.03%로 가장 높았으며 동좌율을 이용한 유효생식집단 크기는 평균 약 3,300쌍으로 산정되었다. Lethal gene의 동형접합에 의한 제거율은 0.0004에서 0.0019의 범위였으며, 이것은 제 2 염색체의 돌연변이율보다 매우 작은 값이다. 김포자연집단의 lethal gene의 일정한 빈도는 p-type mutator factor (P element)의 침입에 의한 증가와 동형 및 이형접합 상태에서의 제거에 의해서 유지된다고 생각한다.

• 농업생명과학연구
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• 제46권6호
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• pp.1-8
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• 2012

본 시험은 한국 고추 육종에 이용되는 교배친의 고추맛에 관여하는 유전자의 유전가를 구명하기 위해 수행하였다. 고추맛과 원예적 특성이 상이한 '#1803'($P_1$)과 '#1532'($P_2$) 두 교배친을 교배하여 이들의 $F_1$, $F_2$ 세대를 본 시험의 공시 재료로 이용하였다. Partitioning method에 따라 고추맛은 A-a와 B-b 두 유효 유전자에 의하여 지배되는데 $F_1$ 세대는 우수 교배친 $P_1$보다 더 우수한 초우성 현상과 $F_2$ 세대는 초월 분리가 일부 나타났다. 고추맛의 유효 유전자 효과는 A-a 유전자에 의해 0.36, B-b 유전자에 의해 0.64가 증가하였다. 한국 고추맛은 유효 유전자간에서 0.94의 간섭효과와 최대 2.86의 제 2효과가 관여하여 복합적인 유전양식을 나타내었다.

• Journal of Microbiology and Biotechnology
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• 제30권12호
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• pp.1801-1809
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• 2020

Chikungunya virus (CHIKV) was first identified in 1952 as a causative agent of outbreaks. CHIKV is transmitted by two mosquito species, Aedes aegypti and A. albopictus. Symptoms after CHIKV infection in human are typically fever and joint pain, but can also include headache, muscle pain, joint swelling, polyarthralgia, and rash. CHIKV is an enveloped single-stranded, positive-sense RNA virus with a diameter of approximately 70 nm. The pathogenesis of CHIKV infection and the mechanism by which the virus evades the innate immune system remain poorly understood. Moreover, little is known about the roles of CHIKV-encoded genes in the viral evasion of host immune responses, especially type I interferon (IFN) responses. Therefore, in the present study, we screened CHIKV-encoded genes for their regulatory effect on the activation of nuclear factor kappa B (NF-κB), a critical transcription factor for the optimal activation of IFN-β. Among others, non-structural protein 2 (nsP2) strongly inhibited melanoma differentiation-associated protein 5 (MDA5)-mediated induction of the NF-κB pathway in a dose-dependent manner. Elucidation of the detailed mechanisms of nsP2-mediated inhibition of the MDA5/RIG-I signaling pathway is anticipated to contribute to the development of virus-specific therapeutics against CHIKV infection.

• 한국수산과학회지
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• 제55권5호
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• pp.549-556
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• 2022

The aim of this study was to evaluate the genetic parameters of growth traits for improvement breeding in olive flounder Paralichthys olivaceus at the 8^th generation of selective breeding in April 2021. Growth traits such as total length, body weight and condition factor at 11 months of age were measured for 7,508 individuals with confirmed paternity. Data were analyzed using the restricted maximum likelihood method applied to a multiple traits animal model. The effects of sex and family were significantly different across traits (P<0.05). The heritability values of total length, body weight and condition factor were estimated to be high as 0.479, 0.457, and 0.466, respectively. Correlation analysis between phenotypic and breeding values, indicated that the selection accuracy was 75.9-85.2% for all traits. To increase the selection accuracy for parent fish selection, the sex and pedigree characteristics that affect each trait should be considered. Moreover, further improvement of multiple traits can be achieved if the correlation between each trait is appropriately considered.

• Clinical and Experimental Reproductive Medicine
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• 제51권1호
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• pp.75-84
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• 2024

Objective: The purpose of this study was to evaluate the impact of preimplantation genetic testing for aneuploidy (PGT-A) on clinical outcomes among high-risk patients. Methods: This retrospective study involved 1,368 patients and the same number of cycles, including 520 cycles with PGT-A and 848 cycles without PGT-A. The study participants comprised women of advanced maternal age (AMA) and those affected by recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or severe male factor infertility (SMF). Results: PGT-A was associated with significant improvements in the implantation rate (IR) and the ongoing pregnancy rate/live birth rate (OPR/LBR) per embryo transfer cycle in the AMA (39.3% vs. 16.2% [p<0.001] and 42.0% vs. 21.8% [p<0.001], respectively), RIF (41.7% vs. 22.0% [p<0.001] and 47.0% vs. 28.6% [p<0.001], respectively), and RPL (45.6% vs. 19.5% [p<0.001] and 49.1% vs. 24.2% [p<0.001], respectively) groups, as well as the IR in the SMF group (43.3% vs. 26.5%, p=0.011). Additionally, PGT-A was associated with lower overall incidence rates of early pregnancy loss in the AMA (16.7% vs. 34.3%, p=0.001) and RPL (16.7% vs. 50.0%, p<0.001) groups. However, the OPR/LBR per total cycle across all PGT-A groups did not significantly exceed that for the non-PGT-A groups. Conclusion: PGT-A demonstrated beneficial effects in high-risk patients. However, our findings indicate that these benefits are more pronounced in carefully selected candidates than in the entire high-risk patient population.

• Clinical and Experimental Pediatrics
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• 제54권8호
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• pp.335-339
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• 2011

Purpose: Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of coronary artery disease. Our hypothesis is that single nucleotide polymorphisms (SNPs) of the MTHFR gene are related to the development of KD and coronary artery lesions (CALs). Methods: For this study, we selected 3 candidate single nucleotide polymorphisms (SNPs) (rs2274976, rs1801131, and rs1801133) of MTHFR. These SNPs are located on chromosome 1p36.3. We included 101 KD patients and 306 healthy adults as controls in this study. CALs were seen in 38 patients. Genotypes of the selected SNPs were determined by direct sequencing and analyzed with SNPAlyze. Results: The genetic distribution and allelic frequency of the 3 MTHFR SNPs (rs2274976, rs1801131, and rs1801133) were not significantly different in patients with KD compared to the control group (P=0.71, 0.17, and 0.96, respectively). There was no difference in the genetic distribution of the MTHFR SNPs between the normal control group and the CAL group (P=0.43, 0.39, 0.52 respectively). Conclusion: The genetic distribution of the MTHFR SNPs (rs2274976, rs1801131, and rs1801133) was not different in the KD group compared to the control group. In addition, the genetic distribution of these SNPs was not different in the CAL group compared to the control group in the Korean population.

• 한국산림과학회지
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• 제98권6호
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• pp.757-763
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• 2009

우리나라에서 주요 장뇌삼 재배지역인 진안, 홍천, 풍기, 안동, 영주 등 5개 지역을 대상으로 지역 간 유연관계를 분석하였으며 산삼의 cDNA library 구축을 통하여 EST 분석을 실시하였다. 24개의 ISSR 표지자를 이용하여 PCR을 수행한 결과, 총 127개의 다형적 증폭산물을 얻을 수 있었으며 지역별로는 영주가 다형적 증폭산물의 수가 18개로 가장 많았다. 유집분석을 수행한 결과, 지역 간 유사도 범위는 0.46~0.58의 범위로 나타났고 영주를 제외한 홍천과 풍기, 안동과 진안이 각각 다른 그룹을 형성함에 따라 지리적 거리와 유전적 유사도와의 관련성은 찾을 수 없었다. 산삼 뿌리에서 cDNA library를 구축하여 EST를 통해 유전자 기능을 분석하였으며 11개의 cDNA의 염기서열을 결정한 후 아미노산 상동성을 비교한 결과, 9개의 EST들이 기능이 알려진 유전자들과 상동성을 나타내었고 2개는 기능이 알려지지 않은 것으로 나타났다. 특히 Homeodomain transcription factor 유전자와 상동성을 나타낸 PGM002를 탐침 DNA로 만들어 장뇌삼의 잎과 뿌리를 대상으로 Northern Blot을 실시한 결과, 장뇌삼의 뿌리에서만 발현되는 전사체임을 확인하였다.

• Asian-Australasian Journal of Animal Sciences
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• 제30권9호
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• pp.1225-1233
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• 2017

Objective: Calving ease (CE) is a complex reproductive trait of economic importance in dairy cattle. This study was aimed to investigate the genetic merits of CE for Holsteins in Korea. Methods: A total of 297,614 field records of CE, from 2000 to 2015, from first parity Holstein heifers were recorded initially. After necessary data pruning such as age at first calving (18 to 42 mo), gestation length, and presence of sire information, final datasets for CE consisted of 147,526 and 132,080 records for service sire calving ease (SCE) and daughter calving ease (DCE) evaluations, respectively. The CE categories were ordered and scores ranged from CE1 to CE5 (CE1, easy; CE2, slight assistance; CE3, moderate assistance; CE4, difficult calving; CE5, extreme difficulty calving). A linear transformation of CE score was obtained on each category using Snell procedure, and a scaling factor was applied to attain the spread between 0 (CE5) and 100% (CE1). A sire-maternal grandsire model analysis was performed using ASREML 3.0 software package. Results: The estimated direct heritability ($h^2$) from SCE and DCE evaluations were $0.11{\pm}0.01$ and $0.08{\pm}0.01$, respectively. Maternal $h^2$ estimates were $0.05{\pm}0.02$ and $0.04{\pm}0.01$ from SCE and DCE approaches, respectively. Estimates of genetic correlations between direct and maternal genetic components were $-0.68{\pm}0.09$ (SCE) and $-0.71{\pm}0.09$ (DCE). The average direct genetic effect increased over time, whereas average maternal effect was low and consistent. The estimated direct predicted transmitting ability (PTA) was desirable and increasing over time, but the maternal PTA was undesirable and decreasing. Conclusion: The evidence on sufficient genetic variances in this study could reflect a possible selection improvement over time regarding ease of calving. It is expected that the estimated genetic parameters could be a valuable resource to formulate sire selection and breeding plans which would be directed towards the reduction of calving difficulty in Korean Holsteins.

• 농업생명과학연구
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• 제44권2호
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• pp.17-28
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• 2010

본 연구에서는 2000년부터 2008년 사이에 출생한 Duroc종, Landrace종 및 Yorkshire종의 GGP (Great Grand Parents) 종돈 31,455두의 농장검정자료를 이용하여 단변량 모체효과 모형에 의한 돼지의 경제형질에 대한 유전모수 및 유전력 추정을 통해 모체효과가 돼지의 경제형질에 미치는 영향에 대하여 알아보았다. 조사된 모든 형질에서 각 요인에 대한 유의성을 검정한 결과 모든 형질에 있어서 품종, 성, 출생년도, 출생계절 및 산차의 효과는 고도의 유의성이 인정되었고 (p<0.01), 모체효과 모형을 이용하였을 때 각 품종별 형질에 대해 추정된 상가적 유전 분산과 모체 유전 분산사이에 부 (-)의 공분산이 존재하고, 이들의 유전 상관도 대부분 강한 부 (-)의 상관관계를 보여 품종, 형질 및 개량 방향에 따라 모체 효과뿐만 아니라 상가적 효과와 모체 효과간의 상관관계도 적절히 고려한다면 좀 더 효율적인 개량효과를 거둘 수 있을 것으로 사료된다.