• Title/Summary/Keyword: Polymorphic markers

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HLA Class II Variants and Disease Associations (HLA 제 2 항원계 유전자 다형성(genomic polymorphism)과 질병감수성의 연관)

  • Kim, Se-Jong
    • The Journal of the Korean Society for Microbiology
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    • v.21 no.2
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    • pp.171-179
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    • 1986
  • The HLA class II region encodes a series of polymorphic glycoproteins that form cell surface heterodimers each consisting of one $\alpha$ and one $\beta$ chain. Thess class II molecules are encoded by genes clustered within three loci. DP, DQ, and DR are functfonally implicated as regulatory signals in intercellular communication during the immune resposes. The phenotypic hallmark of the HLA complex is a high degree of structural and functional polymorphism. Detailed analysis. of such polymorphisms should aid in understanding the molecular basis for associations between HLA and diseases. We have used techniques of restriction enzyme fragment analysis by Southern blotting to investigate polymorphisms associated with DQ $\beta$ class II genes on haplotypes expressing the HLA-DR4 and -DQw3 specificities. The endonucleases Hind III and Bam HI were used to identify a specific DQ $\beta$ genomic polymorphism that precisely corrresponds with the reactivity of a monoclonal antibody A-10-83, previously shown to define a serologic split of DQw3. This study identifies two allelic DQ va. riants. DQw3.1 and DQw3.2. We used these specific genotypic markers to investigate the genomic basis of the association of DR4 with insulin-dependent diabetes mellitus(IDDM) and seropositive juvenile rheumatoid arthritis(JRA). The DR4 positive IDDM demonstrate the predominant expression of DQw3.2 and the very rare expression of DQw3.l. However, in haplotype matched siblings from two IDDM families, all of the DR4 positive siblings display a IDDM-associated DQw3.2 allele. Thus, both affected and healthy individuals can carry the same haplotypes and genomic markers, demonstrating that thess specific allelic variants are genetic elements that indicate a increased risk of IDDM but are not in fact disease specific. We contrasted this result with a similar analysis of patients with another DR4-associated disease, JRA. In contrast to the preponderance of the DQw3.2 allele in IDDM, the JRA patients expressed either the DQw3.1 or the DQw3.2 allele and sometimes both, without apparent association with disease expession. The different genomic markers reported here within HLA-DQ region potentially an analysis of HLA-associated function and disease susceptibility.

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Ethnic Differences in Allelic Frequencies of Two (CA)n Microsatellite Markers Located on Chromosome 5q

  • Hong, Sung-Soo;Chae, Jae-Jin;Goh, Sung-Ho;Yong, Koong-Nam;Lee, Chung-Choo
    • Animal cells and systems
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    • v.1 no.1
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    • pp.123-128
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    • 1997
  • The characteristics of allelic polymorphisms of the two (CA)n microsatellite (p599 and ㅅ599) markers spanning the long arm of chromosome 5 were studied in 52 DNA samples from unrelated inhabitants of Seoul (Korea) by using the polymerase chain reaction (PCR) to investigate differences in allele frequencies between Korean and Caucasian populations. The 6 alleles were observed for p599 (CA)n with a polymorphism informative content (PIC) value of 0.71 and 9 alleles for ㅅ599 (CA)n with a PIC value of 0.82. The observed heterozygote frequencies of the loci were estimated to 0.730 and 0.846, respectively. Several allele frequencies of two loci showed significant differences between Korean and Caucasian populations. Genotype data from the two loci were consistent with the Hardy-Weinberg equilibrium by x2 test. Linkage disequilibrium between p599 (CA)n and ㅅ599 (CA)n loci was observed in x2 test between the observed and expected frequency of allelic association. The probability of matching calculated at each locus was 0.104 for p599 (CA)n and 0.043 for ㅅ599 (CA)n, respectively. These results demonstrate the need to determine populationspecific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined several populations.

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Selection of PCR Markers and Its Application for Distinguishing Dried Root of Three Species of Angelica

  • Jin, Dong-Chun;Sung, Jung-Sook;Bang, Kyong-Hwan;In, Dong-Su;Kim, Dong-Hwi;Park, Hee-Woon;Seong, Nak-Sul
    • Korean Journal of Medicinal Crop Science
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    • v.13 no.2
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    • pp.121-125
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    • 2005
  • An analysis of RAPD-PCR (random amplified polymorphic DNA-polymerase chain reaction) was performed with three Angelica species (A. gigas Nakai, A. sinensis (Olive.) Diels and A. acutiloba Kitag) in an effort to distinguish between members of these three species. Two arbitrary primers (OPC02, OPD11) out of80 primers tested, produced 17 species-specific fragments among the three species. Eight fragments were specific for A. sinensis, four fragments specific for A. gigas, five specific for A. acutiloba. When primers OPC02 and OPD11 were used in the polymerase chain reaction, RAPD-PCR fragments that were specific for each of the three species were generated simultaneously. Primer OPC02 produced eight species-specific fragments: four were specific for A. sinensis, one for A. gigas, and three for A. acutiloba. Primer OPD11 produced nine speciesspecific fragments: four for A. sinensis, three for A. gigas, and two for A. acutiloba. The RAPD-PCR markers that were generated with these two primers should rapidly identify members of the three Angelica species. The consistency of the identifications made with these species-specific RAPD-PCR markers was demonstrated by the observation that each respective marker was generated from three accessions of each species, all with different origins. We also performed the RAPD-PCR analysis with the dried Angelica root samples that randomly collected from marketed and from the OPC02 primer, obtained a A. gigasspecific band and the band were cloned and sequenced.

Biochemical Characterization and Genetic Diversity of Pongamia pinnata (L.) Pierre in Eastern India

  • Kumari, Kanchan;Sinha, Amrita;Singh, Sanjay;Divakara, B.N.
    • Journal of Forest and Environmental Science
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    • v.29 no.3
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    • pp.200-210
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    • 2013
  • Biochemical characteristics of 24 Pongamia pinnata genotypes (candidate plus trees) from three agroclimatic zones were estimated and molecular characterization through RAPD markers was done. Various biochemical characters viz. seed oil, total carbohydrates, protein, acid value and Iodine number recorded significant variation among different genotypes. The highest seed oil content was 41.87% while seeds of 14 genotypes recorded above average (32.11%) for the trait. Seed oil and protein content exhibited a significant positive correlation and moderate heritability. Out of the initially selected twenty-five random primers, twenty-two RAPD primers were found to be highly reproducible and produced a total of 183 loci of which 147 (80.32%) loci were polymorphic. Percentage of polymorphism varied from 44% to 100% with an average of 80.62%. High level of genetic variation was found among different genotypes of P. pinnata. Both molecular and oil content (biochemical) markers appeared useful in analyzing the extent of genetic diversity in Pongamia and the result of these analyses will help to better understand the genetic diversity and relationship among populations. Overall, the Pongamia genotypes included in the study showed a correlation with their geographical origins such that genotypes from the same region tend to have higher genetic similarity as compared to those from different regions. However, in UPGMA based Nei's analysis, some genotypes were found not to be grouped based on geographical origins possibly due to the exchange of germplasm over time between farmers across the regions. The results from oil content analyses showed that several genotypes in 'Central and Western Plateau' agroclimatic zone of Jharkhand displayed a good potential for high oil content. The study provides insight about P. pinnata populations in Jharkhand (India) and constitutes a set of useful background information that can be used as a basis for future breeding strategy and improvement of the species.

Development of Microsatellite Markers and their Use in Genetic Diversity and Population Analysis in Eleutherococcus senticosus

  • Lee, Kyung Jun;An, Yong-Jin;Ham, Jin-Kwan;Ma, Kyung-Ho;Lee, Jung-Ro;Cho, Yang-Hee;Lee, Gi-An
    • Korean Journal of Plant Resources
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    • v.30 no.3
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    • pp.323-330
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    • 2017
  • Eleutherococcus senticosus (Siberian ginseng) is an important medicinal tree found in northeast Asia. In this study, we analyzed the genome-wide distribution of microsatellites in E. senticosus. By sequencing 711 clones from an SSR-enriched genomic DNA library, we obtained 12 polymorphic SSR markers, which also revealed successful amplicons in E. senticosus accessions. Using the developed SSR markers, we estimated genetic diversity and population structure among 131 E. senticosus accessions in Korea and China. The number of alleles ranged from 2 to 11, with an average of 7.4 alleles. The mean values of observed heterozygosity ($H_O$) and expected heterozygosity ($H_E$) were 0.59 and 0.56, respectively. The average polymorphism information content (PIC) was 0.51 in all 131 E. senticosus accessions. E. senticosus accessions in Korea and China showed a close genetic similarity. Significantly low pairwise genetic divergence was observed between the two regions, suggesting a relatively narrow level of genetic basis among E. senticosus accessions. Our results not only provide molecular tools for genetic studies in E. senticosus but are also helpful for conservation and E. senticosus breeding programs.

Diversity and Inheritance of AFLP Markers in Wild and Cultivated Soybeans (AFLP marker를 이용한 콩의 유전적 다양성과 유전분리 분석)

  • 김용호;윤홍태
    • Korean Journal of Plant Resources
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    • v.17 no.3
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    • pp.265-271
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    • 2004
  • Genetic variation is the basis of crop improvement. Limited genetic diversity in a crop species may restrict the amount of genetic improvement that can be achieved through plant breeding. Soybean is one of the world's most important crops. A potential source of genetic variability for the cultivated soybean is the wild species G. soja Sieb. & Zucc. Amplified fragment length polymorphism (AFLP) analysis is a PCR-based technique, which can detect a 10-fold greater nubmer of loci than other DNA marker analysis. Twenty cultivated soybeans and two-hundred wild soybeans were used to determine genetic vatiations by AFLPs and evaluate the usefulness of AFLPs as DNA markers. Six-hundred and ten fragments were detected with an average of 56 AFLP fragments produced per primer in a total of 11 AFLP primer pairs. The number of polymorphic loci detected per primer ranged from 7 to 20 and the polymorphism was greater in wild than in cultivated soybean. F$_2$ segregation analysis of four AFLP fragments in combination of Hwaeomputkong ${\times}$ PI 417479 indicated that they segregate as stable Mendelian loci with 3 : 1. This results strongly suggest that the AFLP analysis is a good technique for the detection of genetic polymorphism in a wide plant species.

Genetic diversity and relationship of Korean chicken breeds using 12 microsatellite markers

  • Kim, Yesong;Yun, Ji Hye;Moon, Seon Jeong;Seong, Jiyeon;Kong, Hong Sik
    • Journal of Animal Reproduction and Biotechnology
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    • v.36 no.3
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    • pp.154-161
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    • 2021
  • A number of Korean Chicken breeds were registered in Domestic Animal Diversity Information System (DAD-IS, http://dad.fao.org/) of the Food and Agriculture Organization (FAO). Evaluation of genetic diversity and relationship of local breeds is an important factor towards the identification of unique and valuable genetic resources. Therefore, this study aimed to analysis the genetic diversity and relationship of 22 Korean Chicken breeds using 12 microsatellite (MS) markers. The mean number of alleles for each variety was 5.52, ranging from a 3.75 (Leghorn F; NF) to a 7.0 (Ross). The most diverse breed was the Hanhyup3 (HCC), which had the highest expected heterozygosity (HExp) (0.754) and polymorphic information content (PIC) (0.711). The NF was the least diverse population, having the lowest HExp (0.467) and PIC (0.413). As a result of the principal coordinates analysis (PCoA) and factorial correspondence analysis (FCA) confirmed that Hy-line Brown (HL) and Lohmann Brown (LO) are very close to each other and that Leghorn and Rhode Island Red (RIR) are clearly distinguished from other groups. Thus, the reliability and power of identification using 12 types of MS markers were improved, and the genetic diversity and probability of individual discrimination were confirmed through statistical analysis. This study is expected to be used as basic data for the identification of Korean chicken breeds, and our results indicated that these multiplex PCR marker sets will have considerable applications in population genetic structure analysis.

Development of SSR Markers and Their Use in Studying Genetic Diversity and Population of Finger Millet (Eleusine coracana L. Gaertn.)

  • Lee, Kyung Jun;Yoon, Mun-Sup;Shin, Myoung-Jae;Lee, Jung-Ro;Cho, Yang-Hee;Lee, Ho-Sun;Ma, Kyung-Ho;Lee, Gi-An
    • Plant Breeding and Biotechnology
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    • v.5 no.3
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    • pp.183-191
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    • 2017
  • Finger millet (Eleusine coracana L. Gaertn.) is an important cereal crop in eastern Africa and southern India with excellent grain storage capacity and the unique ability to thrive in extreme environmental conditions. In this study, we analyzed the genetic diversity and population structure of finger millet using 12 developed microsatellites. By sequencing 815 clones from an SSR-enriched genomic DNA library, we obtained 12 polymorphic SSR markers, which also revealed successful amplicons in finger millet accessions. Using the developed SSR markers, we estimated genetic diversity and population structure among 76 finger millet accessions in Asia, Africa, and unknown origins. The number of alleles ranged from 2 to 9, with an average of 3.3 alleles. The mean values of observed heterozygosity and expected heterozygosity were 0.27 and 0.35, respectively. The average polymorphism information content was 0.301 in all 76 finger millet accessions. AMOVA analysis showed that the percentage of molecular variance among the populations was 1%, that among individuals was 5%, and that within individuals was 94%. In STRUCTURE analysis, the 76 finger millet accessions were divided into two subpopulations which had an admixture of alleles. There was a correspondence among PCoA, AMOVA, and population structure. This study may form the basis for a finger millet breeding and improvement program.

Genetic diversity analysis of Thai indigenous pig population using microsatellite markers

  • Charoensook, Rangsun;Gatphayak, Kesinee;Brenig, Bertram;Knorr, Christoph
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.10
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    • pp.1491-1500
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    • 2019
  • Objective: European pigs have been imported to improve the economically important traits of Thai pigs by crossbreeding and was finally completely replaced. Currently Thai indigenous pigs are particularly kept in a small population. Therefore, indigenous pigs risk losing their genetic diversity and identity. Thus, this study was conducted to perform large-scale genetic diversity and phylogenetic analyses on the many pig breeds available in Thailand. Methods: Genetic diversity and phylogenetics analyses of 222 pigs belonging to Thai native pigs (TNP), Thai wild boars (TWB), European commercial pigs, commercial crossbred pigs, and Chinese indigenous pigs were investigated by genotyping using 26 microsatellite markers. Results: The results showed that Thai pig populations had a high genetic diversity with mean total and effective ($N_e$) number of alleles of 14.59 and 3.71, respectively, and expected heterozygosity ($H_e$) across loci (0.710). The polymorphic information content per locus ranged between 0.651 and 0.914 leading to an average value above all loci of 0.789, and private alleles were found in six populations. The higher $H_e$ compared to observed heterozygosity ($H_o$) in TNP, TWB, and the commercial pigs indicated some inbreeding within a population. The Nei's genetic distance, mean $F_{ST}$ estimates, neighbour-joining tree of populations and individual, as well as multidimensional analysis indicated close genetic relationship between Thai indigenous pigs and some Chinese pigs, and they are distinctly different from European pigs. Conclusion: Our study reveals a close genetic relationship between TNP and Chinese pigs. The genetic introgression from European breeds is found in some TNP populations, and signs of genetic erosion are shown. Private alleles found in this study should be taken into consideration for the breeding program. The genetic information from this study will be a benefit for both conservation and utilization of Thai pig genetic resources.

Molecular analysis of genetic diversity, population structure, and phylogeny of wild and cultivated tulips (Tulipa L.) by genic microsatellites

  • Pourkhaloee, Ali;Khosh-Khui, Morteza;Arens, Paul;Salehi, Hassan;Razi, Hooman;Niazi, Ali;Afsharifar, Alireza;Tuyl, Jaap van
    • Horticulture, Environment, and Biotechnology : HEB
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    • v.59 no.6
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    • pp.875-888
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    • 2018
  • Tulip (Tulipa L.) is one of the most important ornamental geophytes in the world. Analysis of molecular variability of tulips is of great importance in conservation and parental lines selection in breeding programs. Of the 70 genic microsatellites, 15 highly polymorphic and reproducible markers were used to assess the genetic diversity, structure, and relationships among 280 individuals of 36 wild and cultivated tulip accessions from two countries: Iran and the Netherlands. The mean values of gene diversity and polymorphism information content were 0.69 and 0.66, respectively, which indicated the high discriminatory power of markers. The calculated genetic diversity parameters were found to be the highest in wild T. systola Stapf (Derak region). Bayesian model-based STRU CTU RE analysis detected five gene pools for 36 germplasms which corresponded with morphological observations and traditional classifications. Based on analysis of molecular variance, to conserve wild genetic resources in some geographical locations, sampling should be performed from distant locations to achieve high diversity. The unweighted pair group method with arithmetic mean dendrogram and principal component analysis plot indicated that among wild tulips, T. systola and T. micheliana Hoog exhibited the closest relationships with cultivated tulips. Thus, it can be assumed that wild tulips from Iran and perhaps other Middle East countries played a role in the origin of T. gesneriana, which is likely a tulip species hybrid of unclear origin. In conclusion, due to the high genetic variability of wild tulips, they can be used in tulip breeding programs as a source of useful alleles related to resistance against stresses.