• 제목/요약/키워드: Genetic Testing

검색결과 450건 처리시간 0.026초

Simple sequence repeat (SSR) marker를 이용한 벼 품종 식별 (Identification of Rice Variety Using Simple Sequence Repeat (SSR) Marker)

  • 권용삼;박은경;박찬웅;배경미;이승인;조일호
    • 생명과학회지
    • /
    • 제16권6호
    • /
    • pp.1001-1005
    • /
    • 2006
  • SSR markers를 이용하여 벼의 품종간 유전적 유연관계 분석과 품종식별 방법에 대한 연구를 수행하여 얻어진 결과를 요약하면 다음과 같다. SSR primer 50개와 벼 보급종 21품종을 PCR 반응시킨 결과 다형성을 뚜렷하게 나타내는 primer는 23개였으며, 각 marker에 의해 발생된 대립유전자의 수는 $2{\sim}9$까지 검출되었고, 평균값은 3.00개로 나타났다. 유전적 다형성 정도를 나타내어 주는 SSR marker의 PIC 값은 최소 0.091에서부터 최대 0.839까지 다양하게 분석되었다. SSR marker를 이용하여 분석된 벼 21품종에 대한 전체 유전적 유사도는 $0.59{\sim}0.92$의 범위에 속하였고 유사도 지수 0.65를 기준으로 할 때 4개의 그룹으로 구분되었다. SSR marker중에서 RM206, RM225, RM418, RM478은 marker genotype에 의해 21 품종에 대해 각각 고유한 밴드 특성을 나타내어 품종판별이 가능한 것으로 나타났다. 금후 이 연구결과는 벼 보급종의 품종식별을 위해 효과적으로 이용될 수 있는 것으로 나타났다.

Clinical outcomes of preimplantation genetic testing for aneuploidy in high-risk patients: A retrospective cohort study

  • Jun Woo Kim;So Young Lee;Chang Young Hur;Jin Ho Lim;Choon Keun Park
    • Clinical and Experimental Reproductive Medicine
    • /
    • 제51권1호
    • /
    • pp.75-84
    • /
    • 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.

소아 근육병의 진단과 치료 (Neuromuscular disorders in children : Diagnosis and treatment)

  • 채종희
    • Clinical and Experimental Pediatrics
    • /
    • 제51권12호
    • /
    • pp.1295-1299
    • /
    • 2008
  • Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.

유전자알고리즘을 이용한 시지연 공정 식별 (The Identification of Time-Delay Process Using Genetic Algorithm)

  • 최홍규;전광호;송영주;신강욱
    • 한국조명전기설비학회:학술대회논문집
    • /
    • 한국조명전기설비학회 2003년도 학술대회논문집
    • /
    • pp.355-359
    • /
    • 2003
  • In this paper, an identification method for a first order dead time process is proposed. This method used the genetic algorithm for parameter identification of process. The proposed method gives a better identification result than the existing methods under step testing. The effectiveness of the identification method has been demonstrated through a number of simulation examples.

  • PDF

Microsatellite Polymorphism and Genetic Relationship in Dog Breeds in Korea

  • Cho, G.J.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제18권8호
    • /
    • pp.1071-1074
    • /
    • 2005
  • Microsatellite polymorphism and their genetic relationships were estimated using genotype information of 183 dogs from 11 microsatellite loci. The breeds include the indigenous Korean breeds Jindo dog (30), Poongsan dog (20) and Miryang dog (44) together with Chihauhau dog (31) and German Shepherd dog (58). Jindo dogs showed the highest expected heterozygosity (0.796${\pm}$0.030) and polymorphic information contents (0.755) in all populations. The phylogenetic analysis showed the existence of two distinct clusters supported by high bootstrap values: the Korean native dogs and other dogs. They clearly show that Poongsan dog and Miryang dog are closely related to each other when compared with Jindo dog. Microsatellite polymorphism data was shown to be useful for estimating the genetic relationship between Korean native dogs and other dog breeds, and also can be applied for parentage testing in those dog breeds.

Testing microsatellite loci and preliminary genetic study for Eurasian otter in South Korea

  • Jo, Yeong-Seok;Won, Chang-Man;Jung, Jongwoo
    • Journal of Species Research
    • /
    • 제1권2호
    • /
    • pp.240-248
    • /
    • 2012
  • We used a non-invasive technique with microsatellite primers to investigate genetic variation among Eurasian otters Lutra lutra in eastern South Korea. We collected twenty two otter spraints in January and six in August 2008. We used spraints from five dead otters from five different river systems for the present genetic analysis. We extracted DNA from 20 spraints from the January sample. Ten microsatellite primers (Lut435, Lut453, Lut457, Lut604, Lut615, Lut701, Lut715, Lut717, Lut733, and Lut832) for Eurasian otters were tested, and four loci were successfully amplified for further analyses. The results of genotyping the otter population with microsatellite loci lead to the identification of 9 individuals from the Ungokcheon Stream. The Ungokcheon population also showed a genetic structure represented by the Hardy-Weinberg equilibrium.

개선된 유전자 알고리즘을 이용한 최적 공간 배치 설계에 관한 연구 (A Study on the Optimal Facility Layout Design Using an Improved Genetic Algorithm)

  • 한성남;이규열;노명일
    • 한국CDE학회논문집
    • /
    • 제6권3호
    • /
    • pp.174-183
    • /
    • 2001
  • This study proposes an improved genetic algorithm (GA) to derive solutions for facility layout problems having inner walls and passages. The proposed algorithm models the layout of facilities on a flour-segmented chromosome. Improved solutions are produced by employing genetic operations known as selection, crossover, inversion, mutation, and refinement of these genes for successive generations. All relationships between the facilities and passages are represented as an adjacency graph. The shortest path and distance between two facilities are calculated using Dijkstra's algorithm of graph theory. Comparative testing shows that the proposed algorithm performs better than other existing algorithm for the optimal facility layout design. Finally, the proposed algorithm is applied to ship compartment layout problems with the computational results compared to an actual ship compartment layout.

  • PDF

지역소매 유통회사의 효율 최적화를 위한 Genetic Algorithm의 적용 (Optimization of Local Retail Distribution Company Problem using Genetic Algorithm)

  • 윤항묵;김동우;류광렬
    • 한국항만학회지
    • /
    • 제11권1호
    • /
    • pp.75-83
    • /
    • 1997
  • In this paper, we codify the objective function that should be optimized by using Genetic Algorithm instead of Heuristic method to solve these problems. So, each bit that constitutes one structure can signify each commodity. Therefore, we can exchange customers without restriction if the traveling distance diminishes among the districts. Furthermore, even though the capacity of a customer's commodities exceeds that of a vehicle, the following vehicle can be allocated. Also, we obtained good result by testing with real data. To be brief, we can effectively allocate innumerable commodities, that have various magnitudes and weight, into restricted capacity of the vehicle by applying genetic algorithm that is useful in solving the problems of optimization.

  • PDF

The Role of Genetic Diagnosis in Hemophilia A

  • Lee, Ja Young
    • Journal of Interdisciplinary Genomics
    • /
    • 제4권1호
    • /
    • pp.15-18
    • /
    • 2022
  • Hemophilia A is a rare X-linked congenital deficiency of clotting factor VIII (FVIII) that is traditionally diagnosed by measuring FVIII activity. Various mutations of the FVIII gene have been reported and they influence on the FVIII protein structure. A deficiency of or reduction in FVIII protein manifests as spontaneous or induced bleeding depending on the disease severity. Mutations of the FVIII gene provide important information on the severity of disease and inhibitor development. FVIII mutations also affect the discrepant activities found using different FVIII assays. FVIII activity is affected differently depending on the mutation site. Long-range PCR is commonly used to detect intron 22 inversion, the most common mutation in severe hemophilia. However, point mutations are also common in patients with hemophilia, and direct Sanger sequencing and copy number variant analysis are being used to screen for full mutations in the FVIII gene. Advances in molecular genetic methods, such as next-generation sequencing, may enable accurate analysis of mutations in the factor VIII gene, which may be useful in the diagnosis of mild to moderate hemophilia. Genetic analysis is also useful in diagnosing carriers and managing bleeding control. This review discusses the current knowledge about mutations in hemophilia and focuses on the clinical aspects associated with these mutations and the importance of genetic analysis.

National Genetic Evaluation (System) of Hanwoo (Korean Native Cattle)

  • Park, B.;Choi, T.;Kim, S.;Oh, S.H.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • 제26권2호
    • /
    • pp.151-156
    • /
    • 2013
  • Hanwoo (Also known as Korean native cattle; Bos taurus coreanae) have been used for transportation and farming for a long time in South Korea. It has been about 30 yrs since Hanwoo improvement began in earnest as beef cattle for meat yield. The purpose of this study was to determine the trend of improvement as well as to estimate genetic parameters of the traits being used for seedstock selection based on the data collected from the past. Hanwoo proven bulls in South Korea are currently selected through performance and progeny tests. National Hanwoo genetic evaluations are implemented with yearling weight (YW), carcass weight (CW), eye muscle area (EMA), backfat thickness (BF) and marbling score (MS). Yearling weights and MS are used for selecting young bulls, and EMA, BF, and MS are used for selecting proven bulls. One individual per testing room was used for performance tests, and five individuals per room for progeny tests. Individuals tested were not allowed to graze pasture, but there was enough space for them to move around in the testing room. Feeds including roughages and minerals were fed ad libitum, and concentrates were provided at the rate of about 1.8% of individual weight. Overall means of the traits were $352.8{\pm}38.56$ kg, $335.09{\pm}44.61$ kg, $77.85{\pm}8.838\;cm^2$, $8.6{\pm}3.7$ mm and $3.293{\pm}1.648$ for YW, CW, EMA, BF and MS. Heritabilities estimated in this study were 0.30, 0.30, 0.42, 0.50 and 0.63 in YW, CW, EMA, BF and MS, respectively, which are similar to results from previous research. Yearling weight was 315.54 kg in 1998, and had increased to 355.06 kg in 2011, resulting in about 40 kg of improvement over 13 yrs. YW and CW have improved remarkably over the past 15 yrs. Breeding values between 1996 and 2000 decreased or did not change much, but have moved in a desirable direction since 2001. These improvements correspond with the substantial increase in use of animal models since the late 1990s in Korea. Hanwoo testing programs have practically contributed to the improvement in aspects of quality and quantity. In sum, the current selection system is good enough to accommodate circumstances where fewer sires are used on many more cows. Although progeny tests take longer and cost more, they seem to be appropriate under the circumstances of the domestic market with its higher requirement for better meat quality. Consequently, accumulative data collection, genetic evaluation model development, revision of selection indices, as well as cooperation among farms, associations, National Agricultural Cooperative Federation, universities, research institutes, and government agencies must be applied to the Hanwoo selection program. All these efforts will assist the domestic market to secure a competitive position against imported beef under Free Trade Agreement trade system and will provide farmers with higher profits as well as the public with a higher quality of beef.