• 제목/요약/키워드: pedigree analysis

검색결과 95건 처리시간 0.024초

Comparison of Haseman-Elston Linkage Tests with Age-of-Onset or Affection Trait

  • Jung, Kyoung-Hee;Song, Hae-Hiang
    • Communications for Statistical Applications and Methods
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    • 제13권3호
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    • pp.635-649
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    • 2006
  • In this paper, we perform a simulation study of genetic model-free age-of-onset methods in linkage tests which has been proposed by Zhu et al. (1997). They performe. Haseman-Elston regression on a set of bipolar pedigree data using each of three dependent variables: a binary trait indicating disease concordance or discordance, a binary trait adjusted for age-of-onset, and the residuals from a survival analysis. We compare the powers of the proposed test statistics for various situations. Simulations that we have carried out show that the gains in power are observed when the residuals from a survival analysis are used in linkage tests.

Evaluating Genetic Diversity of Agaricus bisporus Accessions through Phylogenetic Analysis Using Single-Nucleotide Polymorphism (SNP) Markers

  • Oh, Youn-Lee;Choi, In-Geol;Kong, Won-Sik;Jang, Kab-Yeul;Oh, Min ji;Im, Ji-Hoon
    • Mycobiology
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    • 제49권1호
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    • pp.61-68
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    • 2021
  • Agaricus bisporus, commonly known as the button mushroom, is widely cultivated throughout the world. To breed new strains with more desirable traits and improved adaptability, diverse germplasm, including wild accessions, is a valuable genetic resource. To better understand the genetic diversity available in A. bisporus and identify previously unknown diversity within accessions, a phylogenetic analysis of 360 Agaricus spp. accessions using single-nucleotide polymorphism genotyping was performed. Genetic relationships were compared using principal coordinate analysis (PCoA) among accessions with known origins and accessions with limited collection data. The accessions clustered into four groups based on the PCoA with regard to genetic relationships. A subset of 67 strains, which comprised a core collection where repetitive and uninformative accessions were not included, clustered into 7 groups following analysis. Two of the 170 accessions with limited collection data were identified as wild germplasm. The core collection allowed for the accurate analysis of A. bisporus genetic relationships, and accessions with an unknown pedigree were effectively grouped, allowing for origin identification, by PCoA analysis in this study.

우리나라 Holstein 능력검정 젖소 집단의 혈통구조 및 근교계수 분석 (Analysis of Pedigree Structure and Inbreeding Coefficient for Performance Tested Holstein Cows in Korea)

  • 원정일;당창권;임현주;정연섭;임석기;이정구;김종복;조미례;민홍립;윤호백
    • 농업생명과학연구
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    • 제50권2호
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    • pp.107-116
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    • 2016
  • 본 연구는 우리나라의 Holstein 능력검정 암소집단의 혈통자료를 이용하여 근교계수 및 혈통구조를 분석함으로써 Holstein 집단의 유전적 다양성 정도를 알아보고자 실시하였다. 2002년부터 2012년 사이에 태어난 Holstein 400,029두에 대한 능력검정 자료 및 509,740두에 대한 혈통정보를 이용하여 분석하였다. 국내 지역별로 혈통완성도를 분석한 결과, 선조 3대까지의 조상을 알고 있는 개체의 비율은 경기, 강원, 충남, 충북, 경북, 경남, 전남, 전북, 제주 및 우리나라 전체에 대해 각각 55.18, 23.49, 47.83, 53.62, 56.38, 51.35, 26.58, 49.41, 56.90 및 63.20%로 나타났다. 한편, 출생년도 별 평균근교계수는 2002년부터 2012년까지의 년도별 평균 및 전체에 대해 각각 0.43, 0.44, 0.58, 0.64, 0.78, 0.93, 1.08, 1.23, 1.46, 1.77, 2.03 및 0.93%로 추정되었다. 또한 아비에서 딸소까지 평균 세대간격은 8.15년으로 나타났으며, 어미에서 딸소까지 평균 세대간격은 4.20년으로 나타났다. 근교계수 및 세대간격을 이용하여 추정한 국내 능력검정 젖소 집단의 유효집단크기는 2004, 2009 및 2012년에 대해 각각 56.5, 51.3 및 32.2두로 추정되어 시간이 지남에 따라 유효집단의 크기가 감소하는 것으로 추정되었다.

Detection of 881A→881G Mutation in Tyrosinase Gene and Associations with the Black Ear Coat Color in Rabbits

  • Jiang, Y.L.;Fan, X.Z.;Lu, Z.X.;Tang, H.;Xu, J.-Q.;Du, L.-X.
    • Asian-Australasian Journal of Animal Sciences
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    • 제15권10호
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    • pp.1395-1397
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    • 2002
  • The tyrosinase gene was selected as a candidate for uncovering genetic mechanism causing 'black ear' coat color in rabbits. A PCR-SSCP detection method was established for the $881^A{\rightarrow}881^G$ mutation located in the central region of the tyrosinase gene between the CuA and CuB binding region signatures, and this was confirmed by sequencing and alignment. Fully consistent associations between the SNP and 'black ear' coat color were observed by analysis in a "black ear" pedigree and on 61 unrelated individuals. This SNP can serve as a molecular marker for use in "back ear" wool rabbit breeding.

한국 도열병균 KI-409 race의 급격한 증가 현황과 원인 분석 (Analysis of Rapid increase of Rice Blast Fungus Race KI-409 in Korea)

  • 한성숙;최성호;나동수;은무영
    • 한국식물병리학회지
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    • 제14권6호
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    • pp.705-709
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    • 1998
  • Temporal and spatial distribution of Korean rice blast fungus (Pyricularia grisea) race KI-409 that has been rapidely increased since 1993 and became predominant in 1995 in Korea were investigated. Varietal resistance of current commercial cultivars of rice to the race was also tested in this study. The race KI-409 was first isolated from rice cv. Namyangbyeo in 1985. Since 1985 the race had been isolated mainly from the rice cultivars having BL1 BL7 pedigree as a resistance source. Distribution ratio of the race in 1995 was 23.7% in average and became a predominant in the P. grisea population in Korea. The race distributed widely and found in all the eight provinces in Korea. Many commercial cultivars such as Chucheongbyeo as well as those with BL1 or BL7 as a genetic background were found to be susceptible to the race KI-409.

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한국 재래닭 경제형질 관련 QTL 탐색 및 표지유전자 개발

  • 이학교;공홍식;이승수;정호영;조창연;상병돈;최철환;김학규
    • 한국가금학회:학술대회논문집
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    • 한국가금학회 2003년도 제20차 정기총회 및 학술발표회
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    • pp.135-137
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    • 2003
  • 본 연구는 한국 재래닭에 대한 유전적 특성에 근거한 표지유전자 및 재래닭 특이유전자와 경제형질간의 연관성을 분석하고자 실시하였다. 연구의 수행을 위해 DNA 초위성체에 의한 경제형질 연관 QTL 지도를 작성하는 것을 목표로 하며, 실험재료로서는 현재 국내의 재래닭을 계통화하여 개량하고 있는 집단으로부터 QTL mapping을 위한 기준집단을 조성하여 이들로부터 경제형질을 조사하고 특정 경제형질 연관 QTL을 탐색하기 위한 연구 설계 및 기준집단을 조성하였다.

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유전성 암과 유전상담 (Hereditary cancer and genetic counseling)

  • 정승용
    • Journal of Genetic Medicine
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    • 제4권1호
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    • pp.15-21
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    • 2007
  • Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

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Validation of 17 Microsatellite Markers for Parentage Verification and Identity Test in Chinese Holstein Cattle

  • Zhang, Yi;Wang, Yachun;Sun, Dongxiao;Yu, Ying;Zhang, Yuan
    • Asian-Australasian Journal of Animal Sciences
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    • 제23권4호
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    • pp.425-429
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    • 2010
  • To develop an efficient DNA typing system for Chinese Holstein cattle, 17 microsatellites, which were amplified in four fluorescent multiplex reactions and genotyped by two capillary electrophoresis injections, were evaluated for parentage verification and identity test. These markers were highly polymorphic with a mean of 8.35 alleles per locus and an average expected heterozygosity of 0.711 in 371 individuals. Parentage exclusion probability with only one sampled parent was approximately 0.999. Parentage exclusion probability when another parent' genotype was known was over 0.99999. Overall probability of identity, i.e. the probability that two animals share a common genotype by chance, was $1.52{\times}10^{-16}$. In a test case of parentage assignment, the 17 loci assigned 31 out of 33 cows to the pedigree sires with 95% confidence, while 2 cows were excluded from the paternity relationship with candidate sires. The results demonstrated the high efficacy of the 17 markers in parentage analysis and individual identification for Chinese Holstein cattle.

RAPD와 SSR 마커를 이용한 사과 품종의 유전적 다양성 분석 (Analysis of Genetic Diversity of Apple Cultivars Using RAPD and SSR Markers)

  • 조강희;허성;김정희;신일섭;한상은;김세희;김대현;김현란
    • 한국육종학회지
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    • 제42권5호
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    • pp.525-533
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    • 2010
  • 본 연구는 사과 품종의 유전적 다양성을 분석하여 육종의 기초 자료로 활용하기 위하여 최근에 국내에서 육성된 품종 및 도입품종을 포함한 34품종을 대상으로 RAPD와 SSR 분석을 수행하였다. RAPD분석에서 총 37종의 선발된 임의 primer를 분석하여 193개의 다형성 밴드(36.2%)를 얻었으며, 평균 다형성 밴드 수는 5.6개였다. SSR 마커 26종을 이용하여 분석한 결과 총 112개의 대립인자가 확인되었고, 마커 당 대립인자 수는 평균 4.3개였다. 유전적 다양성(PIC 값)은 평균 0.843이었고 범위는 0.536(CH03d12)-0.952(CH04c06)였다. RAPD와 SSR분석에서 획득된 305개의 다형성 밴드를 이용하여 UPGMA(비가중 평균결합) 방식으로 유사도 및 집괴분석을 수행한 결과 유전적 유사도 0.640를 기준으로 4개의 그룹으로 분류되었다. 제1그룹에는 '서광'이 단독으로 분류되었고, 제2그룹에는 12품종이 속하였는데 'Spur Earliblaze'와 'Jonathan'을 제외하고 대부분 'Golden delicious'를 교배친으로 이용하여 육성된 품종이 분포하는 것으로 나타났다. 제3그룹에는 'Fuji'와 'Fuji'를 교배친으로 이용되여 선발된 품종 및 그의 아조변이 품종 등 13개 품종이 속하였고 제4그룹에는 '홍로', '감홍', '새나라' 등 8품종이 포함되었다. 품종간 유전적 유사도는 0.529-0.987의 범위로 평균 유전적 유사도는 0.647이었다. 가장 높은 유사도 값(0.987)을 나타낸 품종은 '화랑'과 '단홍' 품종 간이었고 가장 낮은 유사도 지수(0.529)를 나타낸 품종은 '서광'과 '화랑' 품종 간이었다. 본 실험을 통해 사과 34품종 간의 유연관계는 알려진 pedigree와 일치하는 것을 알 수 있었다.

가족성 해면혈관종에서 염색체 7q CCM1 염기서열의 가족간 연관성 분석 (Family Linkage Analysis of CCM1 Locus on Chromosome 7q in Familial Cavernous Malformation)

  • 심기범;이창섭;김승기;왕규창;김영임;조병규
    • Toxicological Research
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    • 제21권2호
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    • pp.135-140
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    • 2005
  • Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to $55\%$ of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It's first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.