• 제목/요약/키워드: haplotypes

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Mitochondrial DNA Cytochrome b 분석을 통한 한국 내 삵의 유전적 다양성 조사 (Genetic diversity in Korean leopard cats (Prionailurus bengalensis euptilura), based on mitochondrial DNA cytochrome b gene sequence analysis)

  • 김영섭;유미현;정배동;김종택
    • 한국동물위생학회지
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    • 제33권4호
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    • pp.353-359
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    • 2010
  • Nucleotide sequences of mitochondrial DNA (mtDNA) of 19 leopard cats (Prionailurus bangalensis euptilura) obtained from Seoul grand park zoo in South Korea were determined for analysing genetic diversity. In the leopard cats, 3 haplotypes of the partial cytochrome b sequences (603 base-pairs, bp) were identified. Haplotypes obtained from those genes showed existences of at least 3 maternal lineages of leopard cats in Korea. Tamura-Nei nucleotide distance among 3 haplotypes were 0.00. Molecular phylogenetic tree showed the similar clustering of haplotypes for genes. Meanwhile, no individual variations within the leopard cats in S. Korea. Genetic surveillance system of leopard cats in S. Korea is warranted for maintaining biological conservation.

Association between Motilin Receptor Gene Haplotypes and Growth Traits in Japanese Hinai-dori Crossbred Chickens

  • Takahashi, Hideaki;Rikimaru, Kazuhiro;Komatsu, Megumi;Uemoto, Yoshinobu;Suzuki, Keiichi
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권3호
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    • pp.316-323
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    • 2014
  • We previously identified quantitative trait loci (QTL) for body weight and average daily gain in a common region between ADL0198 (chr 1: 171.7 Mb) and ABR0287 (chr 1: 173.4 Mb) on chicken chromosome 1 in an $F_2$ resource population produced by crossing low- and high-growth lines of the Hinai-dori breed. Motilin receptor (MLNR) is a candidate gene affecting growth traits in the region. In this study, we genotyped polymorphisms of the MLNR gene and investigated its association with growth traits in a Hinai-dori $F_2$ intercross population. All the exons of the MLNR gene in the parental population were subjected to PCR amplification, nucleotide sequenced and haplotypes identified. To distinguish resultant diplotype individuals in the $F_2$ population, a mismatch amplification mutation assay was performed. Three haplotypes (Haplotypes 1-3) were accordingly identified. Six genotypes produced by the combination of three haplotypes (Haplotype 1, 2, and 3) were examined in order to identify associations between MLNR haplotypes and growth traits. The data showed that Haplotype 1 was superior to Haplotype 2 and 3 in body weight at 10 and 14 weeks of age, average daily gain between 4 and 10 weeks, 10 and 14 weeks, and 0 and 14 weeks of age in female in $F_2$ females. It was concluded that MLNR is a useful marker of growth traits and could be used to develop strategies for improving growth traits in the Hinai-dori breed.

일배체형에 기초한 연쇄분석의 통계학적 알고리즘 연구 (Statistical Algorithm in Genetic Linkage Based on Haplotypes)

  • 김진흠;강대룡;이윤경;신선미;서일;남정모
    • Journal of Preventive Medicine and Public Health
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    • 제37권4호
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    • pp.366-372
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    • 2004
  • Objectives : This study was conducted to propose a new transmission/disequilibrium test(TDT) to test the linkage between genetic markers and disease-susceptibility genes based on haplotypes. Simulation studies were performed to compare the proposed method with that of Zhao et al. in terms of type I error probability and powers. Methods : We estimated the haplotype frequencies using the expectation-maximization(EM) algorithm with parents genotypes taken from a trio dataset, and then constructed a two-way contingency table containing estimated frequencies to all possible pairs of parents haplotypes. We proposed a score test based on differences between column marginals and their corresponding row marginals. The test also involved a covariance structure of marginal differences and their variances. In simulation, we considered a coalescent model with three genetic markers of biallele to investigate the performance of the proposed test under six different configurations. Results : The haplotype-based TDT statistics, our test and Zhao et al.'s test satisfied a type I error probability, but the TDT test based on single locus showed a conservative trend. As expected, the tests based on haplotypes also had better powers than those based on single locus. Our test and that of Zhao et al. were comparable in powers. Conclusion : We proposed a TDT statistic based on haplotypes and showed through simulations that our test was more powerful than the single locus-based test. We will extend our method to multiplex data with affected and/or unaffected sibling(s) or simplex data having only one parent s genotype.

Susceptible and Protective Associations of HLA Alleles and Haplotypes with Cervical Cancer in South India

  • Rathika, Chinniah;Murali, Vijayan;Dhivakar, Mani;Kamaraj, Raju;Malini, Ravi Padma;Ramgopal, Sivanadham;Balakrishnan, Karuppiah
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권5호
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    • pp.2491-2497
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    • 2016
  • Background: Human leukocyte antigen (HLA) genes have been implicated in cervical cancer in several populations. Objectives: To study the predispositions of HLA alleles/haplotypes with cervical cancer. Materials and Methods: Clinically diagnosed and PAP smear confirmed cervical cancer patients (n 48) and age matched controls (n 47) were genotyped for HLA-A,-B,-DRB1* and DQB1* alleles by PCR-SSP methods. Results: The frequencies of alleles DRB1*04 (OR=2.57), DRB1*15 (OR=2.04), DQB1*0301 (OR=4.91), DQB1*0601 (OR=2.21), B*15 (OR=13.03) and B*07 (OR=6.23) were higher in cervical cancer patients than in the controls. The frequencies of alleles DRB1*10 (OR=0.22) and B*35 (OR=0.19) were decreased. Strong disease associations were observed for haplotypes DRB1*15-DQB1*0601 (OR=6.56; p< $3.5{\times}10^{-4}$), DRB1*14-DQB1*0501 (OR=6.51; p<0.039) and A*11-B*07 (OR=3.95; p<0.005). The reduced frequencies of haplotypes DRB1*10-DQB1*0501 (OR=0.45), A*03-B*35 (OR=0.25) and A*11-B*35 (OR= 0.06) among patients suggested a protective association. HLA-C* typing of 8 patients who possessed a unique three locus haplotype 'A*11-B*07-DRB1*04' (8/48; 16.66%; OR=6.51; p<0.039) revealed the presence of a four locus haplotype 'A*11-B*07-C*01-DRB1*04' in patients (4/8; 50%). Amino acid variation analysis of susceptible allele DQB1*0601 suggested 'tyrosine' at positions ${\beta}9$ and ${\beta}37$ and tyrosine-non-tyrosine genotype combination increased the risk of cervical cancer. Conclusions: Strong susceptible associations were documented for HLA alleles B*15, B*07, DRB1*04, DRB1*15, DQB1*0301, DQB1*0601 and haplotypes DRB1*15-DQB1*0601 and DRB1*14-DQB1*0501. Further, protective associations were evidenced for alleles B*35 and DRB1*10 and haplotypes A*11-B*35 and DRB1*10-DQB1*0501 with cervical cancer in South India.

Genetic association of swine leukocyte antigen class II haplotypes and body weight in Microminipigs

  • Matsubara, Tatsuya;Takasu, Masaki;Imaeda, Noriaki;Nishii, Naohito;Takashima, Satoshi;Nishimura, Takashi;Nishimura, Toshiaki;Shiina, Takashi;Ando, Asako;Kitagawa, Hitoshi
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권2호
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    • pp.163-166
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    • 2018
  • Objective: Microminipigs are a novel animal model with extensive applications in laboratory studies owing, in part, to their extremely small body sizes. In this study, the relationship between swine leukocyte antigen (SLA) class II haplotype and body weight was evaluated in the Microminipig population. Methods: A total of 1,900 haplotypes, covering SLA class II haplotypes Lr-0.7, Lr-0.23, Lr-0.17, Lr-0.37, Lr-0.16, Lr-0.11, Lr-0.13, and Lr-0.18, were analyzed in 950 piglets. Birth weights and weights on postnatal day 50 were examined in piglets with eight different SLA class II haplotypes. Results: The mean birth weight of piglets with the Lr-0.23 haplotype (0.415 kg, n = 702) was significantly lower than that of piglets with Lr-0.17 (0.445 kg, n = 328) and Lr-0.37 (0.438 kg, n = 383) haplotypes. At postnatal day 50, the mean body weight of piglets with the Lr-0.23 haplotype (3.14 kg) was significantly lower than that of piglets with the Lr-0.13 haplotype (3.46 kg, p<0.01). There were no significant differences in daily gains (DGs) among the eight haplotypes. However, piglets with the Lr-0.11 and -0.18 haplotype combination or any heterozygous haplotype combinations containing Lr-0.23 had significantly lower DGs than those of piglets with the Lr-0.18, 0.37 haplotype combination. Conclusion: Piglets with the Lr-0.23 haplotype had relatively low body weights at birth and on postnatal day 50 and slightly lower DGs than those of piglets with other haplotypes. Therefore, the Lr-0.23 SLA class II haplotype may be a suitable marker for the selective breeding of Microminipigs with small body sizes.

Molecular Phylogeny and Geography of Korean Medaka Fish (Oryzias latipes)

  • Kang, Tae-Wook;Lee, Eun-Hye;Kim, Moo-Sang;Paik, Sang-Gi;Kim, Sang-Soo;Kim, Chang-Bae
    • Molecules and Cells
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    • 제20권1호
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    • pp.151-156
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    • 2005
  • The phylogeny and geography of the medaka (Oryzias latipes) populations of Korea were investigated by analyzing sequence data for the mitochondrial control region. From the 41 haplotypes including 25 Korean haplotypes detected in 64 Korean specimens and data for the Japanese and Chinese populations, phylogenetic and nested clade analyses were executed to examine the phylogeny of haplogroups and the relation of the genetic architecture of the haplotypes to the historical geography of the Korean medaka fish. The analyses suggest that there are two very distinct lineages of Korean medaka, and that these result from reproductive isolation mechanisms due to geographic barriers. The southeastern lineage has experienced recent range expansion to the western region. The northwestern lineage, sister to Chinese populations, showed evidence of internal range expansion with shared haplotypes.

Phylogenetic Analysis of a Privately-owned Korean Native Chicken Population Using mtDNA D-loop Variations

  • Hoque, M.R.;Choi, N.R.;Sultana, H.;Kang, B.S.;Heo, K.N.;Hong, S.K.;Jo, C.;Lee, Jun-Heon
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권2호
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    • pp.157-162
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    • 2013
  • The use of Korean native chicken is increasing, and the discovery of new genetic resources is very important from both economic and genetic conservation points of view. In this study, mtDNA D-loop sequences from 272 privately-owned Korean native chickens from a Hyunin farm were investigated. Seventeen nucleotide substitutions were identified from the sequence analysis and they were classified as 6 haplotypes. Previously investigated haplotypes in five Korean native chicken populations have been compared with the Hyunin chicken population. The results indicated that two haplotypes, H10 and H15, in the Hyunin chicken population were not previously identified in other Korean native chicken populations, representing 33.09% (90/272) and 1.1% (3/272) of the Hyunin population, respectively. On the other hand, four other haplotypes were identical to those of a previous study of Korean native chicken populations. This result is indicative of conservation strategies of Hyunin chicken populations for expanding the genetic diversity in the Korean native chicken population.

Chinese Holstein Cattle Shows a Genetic Contribution from Native Asian Cattle Breeds: A Study of Shared Haplotypes and Demographic History

  • Ferreri, Miro;Gao, Jian;Wang, Zhi;Chen, Liben;Su, Jingliang;Han, Bo
    • Asian-Australasian Journal of Animal Sciences
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    • 제24권8호
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    • pp.1048-1052
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    • 2011
  • The Chinese Holstein cattle breed, an introduced breed in China, has been crossbred with native cattle breeds. We hypothesised that the Chinese Holstein local population in Beijing share haplotypes with native Asian cattle breeds, the result of a sudden population expansion in the recent past. We also hypothesised that crossbreeding and population expansion left traces that shaped the genetic makeup of the breed. Evaluation of this was performed by mitochondrial DNA (mtDNA) sequence analysis of Chinese Holstein cattle from Beijing (n = 41) and a comparison of them with the published mtDNA sequences (n = 293) of 14 Asian breeds with an emphasis on Chinese native cattle breeds. Three shared common haplotypes between Chinese Holstein cattle and native Asian cattle were found. Moreover, a high level of haplotype diversity in Chinese Holstein cattle (h = 0.9557) and low nucleotide diversity (${\pi}$ = 0.0052) was found, indicating a past population bottleneck followed by rapid population growth. These findings are supported by the significantly negative deviation of Tajima's D (-1.82085), the star-like pattern of dominant haplotypes and the pairwise mismatch distribution analysis, which showed a unimodal pattern.

Functional Haplotypes and Evolutionary Analyses of SBE1 in Collected Rice Germplasm

  • Thant Zin Maung;Yong-Jin Park
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.216-216
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    • 2022
  • The starch-branching enzymes (BEs) are responsible for synthesizing the amylopectin, which plays an important role in determining the structural and physical properties of starch granules. BE has two differently functioning isoforms (BEI and BEIIa/b) based on their difference in the chain-length pattern by the degree of polymerization (DP), which mainly contributes to the amylopectin chain length distribution in starch biosynthesis. In this study, we investigated functional haplotypes and evolutionary analyses of SBE1 in 374 rice accessions (320 Korean bred and 54 wild). The analyses were performed based on the classified subpopulations. Haplotype analysis generates a total of 8 haplotypes, of which only four haplotypes were functional carrying four functional SNPs in four different exons of SBE1 on chromosome 6. Nucleotide diversity analysis showed a highest pi-value in aromatic group (0.0029), while the lowest diversity value was in temperate japonica (0.0002), indicating the signal of this gene evolution origin. Different directional selections could be estimated by negative Tajima's D value of temperate japonica (-1.1285) and positive Tajima's D value of tropical japonica (0.9456), where the selective sweeps were undergone by both positive purifying and balancing selections. Phylogenetic analysis indicates a closer relationship of the wild with most of the cultivated subgroups indicating a common ancestor for SBE1 gene. FST-values indicate distant genetic relationships of temperate japonica from all other classified groups. PCA and population structure analysis show an admixed structure of wild and cultivated subpopulations in some proportions.

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mtDNA Diversity and Phylogenetic State of Korean Cattle Breed, Chikso

  • Kim, Jae-Hwan;Byun, Mi Jeong;Kim, Myung-Jick;Suh, Sang Won;Ko, Yeoung-Gyu;Lee, Chang Woo;Jung, Kyoung-Sub;Kim, Eun Sung;Yu, Dae Jung;Kim, Woo Hyun;Choi, Seong-Bok
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권2호
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    • pp.163-170
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    • 2013
  • In order to analyze the genetic diversity and phylogenetic status of the Korean Chikso breed, we determined sequences of mtDNA cytochrome b (cyt b) gene and performed phylogenetic analysis using 239 individuals from 5 Chikso populations. Five non-synonymous mutations of a total of 15 polymorphic sites were identified among 239 cyt b coding sequences. Thirteen haplotypes were defined, and haplotype diversity was 0.4709 ranging from 0.2577 to 0.6114. Thirty-five haplotypes (C1-C35) were classified among 9 Asia and 3 European breeds. C2 was a major haplotype that contained 206 sequences (64.6%) from all breeds used. C3-C13 haplotypes were Chikso-specific haplotypes. C1 and C2 haplotypes contained 80.5% of cyt b sequences of Hanwoo, Yanbian, Zaosheng and JB breeds. In phylogenetic analyses, the Chikso breed was contained into B. taurus lineage and was genetically more closely related to two Chinese breeds than to Korean brown cattle, Hanwoo. These results suggest that Chikso and Hanwoo have a genetic difference based on the mtDNA cyt b gene as well as their coat color, sufficient for classification as a separate breed.