• Title/Summary/Keyword: Pedigree analysis

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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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    • v.13 no.3
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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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    • v.49 no.1
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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.

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

  • Won, J.I.;Dang, C.G.;Lim, H.J.;Jung, Y.S.;Im, S.K.;Lee, J.K.;Kim, J.B.;Cho, M.R.;Min, H.L.;Yoon, H.B.
    • Journal of agriculture & life science
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    • v.50 no.2
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    • pp.107-116
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    • 2016
  • The study was aimed to analyze pedigree structure and inbreeding coefficients for performance tested Holstein cows in Korea. A total of 400,029 Holstein cows data which born between 2002 and 2012 were obtained from Dairy Cattle Improvement Center of National Agricultural Cooperative Federation(NACF). Their related pedigrees, as obtained from Korean Animal Improvement Association(KAIA), consisted of 509,740 animals. Pedigree depth of the cows were traced back to 3 generations earlier. The percentage of cows with fully identified ancestors in various provinces of Korea were 55.18%(Gyeonggi-do), 23.49%(Gangwon-do), 47.83%(Chungcheongnam-do), 53.62%(Chungcheongbuk-do), 56.38%(Gyeongsangbuk-do), 51.35% (Gyeongsangnam-do), 26.58%(Jeollanam-do), 49.41%(Jeollabuk-do), and 56.90%(Jeju-do), whereas, it was about 63.20% as a whole in Korea. The average inbreeding coefficients showed increment across the consecutive years of birth such as, 0.43(2002), 0.44(2003), 0.58(2004), 0.64(2005), 0.78(2006), 0.93(2007), 1.08(2008), 1.23(2009), 1.46(2010), 1.77(2011), and 2.03 (2012). However, this coefficient was 0.93 in overall Korean population. An average generation interval for sire to daughter genetic path was 8.15 years; which was about 4.20 years considering dam to daughter genetic path. The estimated effective population sizes (Ne) were 56.5, 51.3, and 32.2 animals born in 2004, 2009, and 2012, respectively. These results indicated that an increased rate of inbreeding has led to a significant reduction in the Ne over the decade.

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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    • v.15 no.10
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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.

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

  • 한성숙;최성호;나동수;은무영
    • Korean Journal Plant Pathology
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    • v.14 no.6
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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
    • Proceedings of the Korea Society of Poultry Science Conference
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    • 2003.11a
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    • pp.135-137
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    • 2003
  • The analyses of relationship between specific genes and economic traits were performed on the basis of the genetic characterization of Korean native chicken in this study. Three generation reference pedigree was established from the several lines of Korean native chicken and cornish breed for the linkage analysis and many economic traits were collected for QTL(quantitative trait loci) detection. The experimental design were planed to detect QTLs of meat quality and laying performance from those two distinctive breeds.

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Hereditary cancer and genetic counseling (유전성 암과 유전상담)

  • Jeong, Seung-Yong
    • Journal of Genetic Medicine
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    • v.4 no.1
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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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    • v.23 no.4
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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.

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

  • Cho, Kang-Hee;Heo, Seong;Kim, Jeong-Hee;Shin, Il Sheob;Han, Sang Eun;Kim, Se Hee;Kim, Dae-Hyun;Kim, Hyun Ran
    • Korean Journal of Breeding Science
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    • v.42 no.5
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    • pp.525-533
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    • 2010
  • In this study, random amplified polymorphic DNA (RAPD) and simple sequence repeat (SSR) analyses were utilized for evaluation of genetic diversity of 34 Korean bred and introduced apple cultivars. Thirty-seven RAPD primers detected a total of 193 polymorphic bands (36.2%) with an average of 5.6. Twenty-six SSR markers generated a total of 112 alleles with an average 4.3 alleles per locus. Genetic diversity of 34 cultivars estimated by polymorphic information content (PIC) value ranged from 0.536 (CH03d12) to 0.952 (CH04c06) with an average of 0.843. By UPGMA (unweighted pair-group method arithmetic average) cluster analysis with 305 polymorphic bands, the apple cultivars were classified four groups by similarity index of 0.640. The 'Seokwang' was included in group I. Group II consisted of 12 cultivars which have 'Golden Delicious' in their pedigree, with the exception of 'Spur Earliblaze' and 'Jonathan'. Group III included 13 cultivars which have usually 'Fuji' in their ancestry and bud sport of 'Fuji' cultivars. Group IV consisted of 8 cultivars with 'Hongro', 'Gamhong', and 'Saenara'. Similarity values among the tested apple cultivars ranged from 0.529 to 0.987, and the average similarity value was 0.647. The similarity index was the highest (0.987) between 'Hwarang' and 'Danhong', and the lowest (0.529) between 'Seokwang' and 'Hwarang'. The genetic relationships among the 34 studied apple cultivars were basically consistent with the known pedigree.

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

  • Sim Ki-Bum;Lee Chang Sub;Kim Seung-Ki;Wang Kyu-Chang;Kim Young-Im;Cho Byung-Kyu
    • Toxicological Research
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    • v.21 no.2
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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.