• Title/Summary/Keyword: Polymorphism chromosome

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Development of SNP marker set for marker-assisted backcrossing (MABC) in cultivating tomato varieties

  • Park, GiRim;Jang, Hyun A;Jo, Sung-Hwan;Park, Younghoon;Oh, Sang-Keun;Nam, Moon
    • Korean Journal of Agricultural Science
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    • v.45 no.3
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    • pp.385-400
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    • 2018
  • Marker-assisted backcrossing (MABC) is useful for selecting offspring with a highly recovered genetic background for a recurrent parent at early generation unlike rice and other field crops. Molecular marker sets applicable to practical MABC are scarce in vegetable crops including tomatoes. In this study, we used the National Center for Biotechnology Information- short read archive (NCBI-SRA) database that provided the whole genome sequences of 234 tomato accessions and selected 27,680 tag-single nucleotide polymorphisms (tag-SNPs) that can identify haplotypes in the tomato genome. From this SNP dataset, a total of 143 tag-SNPs that have a high polymorphism information content (PIC) value (> 0.3) and are physically evenly distributed on each chromosome were selected as a MABC marker set. This marker set was tested for its polymorphism in each pairwise cross combination constructed with 124 of the 234 tomato accessions, and a relatively high number of SNP markers polymorphic for the cross combination was observed. The reliability of the MABC SNP set was assessed by converting 18 SNPs into Luna probe-based high-resolution melting (HRM) markers and genotyping nine tomato accessions. The results show that the SNP information and HRM marker genotype matched in 98.6% of the experiment data points, indicating that our sequence analysis pipeline for SNP mining worked successfully. The tag-SNP set for the MABC developed in this study can be useful for not only a practical backcrossing program but also for cultivar identification and F1 seed purity test in tomatoes.

Expression Characterization, Polymorphism and Chromosomal Location of the Porcine Calsarcin-3 Gene

  • Wang, Heng;Yang, Shulin;Tang, Zhonglin;Mu, Yulian;Cui, Wentao;Li, Kui
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.9
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    • pp.1349-1353
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    • 2007
  • Calcineurin is a calmodulin dependent protein that functions as a regulator of muscle cell growth and function. Agents capable of interacting with calcineurin could have important applications in muscle disease treatment as well as in the improvement of livestock production. Calsarcins comprise a family of muscle-specific calcineurin binding proteins which play an important role in modulating the function of calcineurin in muscle cells. Recently, we described the first two members of the calsarcin family (calsarcin-1 and calsarcin-2) in the pig. Here, we characterized the third member of the calsarcin family, calsarcin-3, which is also expressed specifically in skeletal muscle. However, unlike calsarcin-1 and calsarcin-2, the calsarcin-3 mRNA expression in skeletal muscle kept rising throughout the prenatal and postnatal development periods. In addition, radiation hybrid mapping indicated that porcine calsarcin-3 mapped to the distal end of the q arm of pig chromosome 2 (SSC2). A C/T single nucleotide polymorphism site in exon 5 was genotyped using the denaturing high performance liquid chromatography (DHPLC) method and the allele frequencies at this locus were significantly different among breeds.

Analyses of Karyotype and DNA Polymorphism in Coix Lacryma-jobi (율무의 핵형 및 DNA 다형 분석)

  • 김정림;김연복;최세훈;박철호
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2002.11b
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    • pp.36-37
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    • 2002
  • 율무(Coix lacryma-jobi)의 핵형 분석을 한 결과 1번 염색체는 short arm과 long arm의 크기가 같은 metacentric chromosome이었으며, 전체의 염색체에 대한 상대적인 길이가 12.8로 가장 길었다. 1번 염색체는 단완과 장완의 양쪽 터미널에 각각 하나씩의 밴드를 나타냈으며 단완과 장완 각각에 interstitial band가 나타났다. 또한 1번 염색체는 단완 끝에 부수체를 갖는 NOR 염색체임을 알 수 있었다. 2번 염색체는 Short arm에 비해 long arm이 길었으며, 전체의 염색체에 대한 상대적인 길이는 11.8로 1번 염색체 다음으로 길었다. 2번 염색체 단완 끝에 하나의 터미널 밴드와 양완의 중간에 각각 interstitial 밴드를 나타냈다. 3번 염색체는 2번 염색체 보다 short arm의 길이보다 더 짧았으며, 상대적인 길이는 10.8로 2번 염색체보다 짧았다. 3번 염색체는 단완 끝에 하나의 terminal 밴드와 centromere 밴드를 나타냈다.(중략)

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Analysis of Single Nucleotide Polymorphism of MMP3 Gene in Korean Genome

  • Kim, Su-Mi;Kim, Su-Won;Yoo, Min
    • Biomedical Science Letters
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    • v.18 no.1
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    • pp.76-78
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    • 2012
  • MMP3 (Matrix metalloproteinase-3) is an important gene in the development of cardiovascular and metabolic diseases. It is also reported that the genotype of MMP3 could be a factor for disease conditions. So, SNP analysis is a prerequisite to study MMP3 related diseases. However, statistical data or analytical reports of this gene in the Korean population is not available. We have employed PCR and ARMS technique to amplify the position of Lys45Glu which is located within chromosome 11q22.3 and exon 2. Genomic DNA were extracted from 201 people. We found that, 17 individuals had the wild homozygote type (W/W, 8%), 98 individuals had the SNP homozygote type (S/S, 49%), 86 had the heterozygote type (W/S, 43%). This study should facilitate research on the cause of cardiovascular diseases due to polymorphisms in the MMP3 gene and to develop further therapy at the genetic level.

Taxonomic Strudy of the Combitid Fish, Cobitis Iutheri Rendahl and C. striata Ikeda (Cobitidae) from Korea (한국산 점줄종개(Cobitis lutheri) 와 줄종개(C.striata)의 분류학적 연구)

  • 김익수;이금영
    • Animal Systematics, Evolution and Diversity
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    • v.4 no.2
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    • pp.91-102
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    • 1988
  • Both Cobitis lutheri Rendahl and C.striata Ikeda previously regarded as the subspecies of C.taenia are revised here and raised to the species rank based on the distinct color pattern on their body sides in relation to the shpae of lamina circularis and suborbital spine, and distinct distributional patter. C. lutheri was similar to C. striata in chromosome number and karyotype, but chromosomal polymorphism as Robert sonian event was confirmed only in the population of C.lutheri studies. Both, C. kutheri and C..striata have disjunct ranges : the former in western Korea and east-northern China Mainland, the latter in the Smjin River of korea and west-southern Japan. hybridization between C. lutheri and C. striata by secondary contact appeared in the limited zone of the Dongjin River, Chllabuk-do province, korea, but the evidence for habitat segregation between them suggests the possibility that natural hybridization occurs between the two species and introgression results. We consider that the two species were produced as ecological equivalent species in the different branch stream of the Paleo-Hwangho River , The time of recession of sea level during the gracial period.

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The induction of Micronucleus and Aneuploidy in human lymphocytes by Hydroquinone and its association with Genetic Polymorphisms of CYP1A1, GSTM1, GSTT1, NQO1 gene

  • Chung, Eun-Jung;Kim, Tae-Yon;Kim, Jin-Sik;Kim, Yang-Ji;Cho, Yoon-Hee;Chung, Hai-Won
    • Proceedings of the Korean Society of Toxicology Conference
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    • 2002.11b
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    • pp.176-176
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    • 2002
  • In order to investigate whether the induction of micronucleus and aneuploidy in human lymphocytes by Hydroquinone (HQ) is associated with genetic polymorphisms of CYP1A1, GSTM1, GSTT1, NQO1 gene, the cytokinesis-block micronucleus (CBMN) assay in combination with fluorescence in situ hybridization (FISH) technique using specific centromeric probes for chromosome 7 and 8 and PCR-RFLP based genotyping for 30 healthy people were performed.(omitted)

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Freemartinism in replacement ewe-lambs of the Ripollesa sheep breed

  • Mari, Pilar;Casellas, Joaquim
    • Journal of Veterinary Science
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    • v.19 no.6
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    • pp.858-861
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    • 2018
  • The freemartinism syndrome affects almost all female calves born as co-twins to male calves, whereas little is known about this phenomenon in female sheep. Within this context, 1,185 ewe-lambs from the Ripollesa sheep breed were genotyped for the presence of oY1 polymorphism (a non-autosomal region of the Y chromosome). Neither ewe-lambs from single births (856) nor ewe-lambs from all-female multiple births (170) were revealed as freemartins, whereas five of 159 ewe-lambs from multiple births with male co-twins were freemartins ($3.15{\pm}1.38%$). All freemartin ewe-lambs were confirmed by physical examination of external genitalia. The results confirm a low incidence of freemartinism from heterosexual twin pregnancies in Ripollesa sheep.

Impact and Prevalence of Renin-angiotensin System Gene Polymorphism of Renal Anomalies in Turner Syndrome (터너 증후군에서 신기형의 발생에 미치는 레닌-안지오텐신계 유전자 다형성의 영향)

  • Park Ji-Kyoung;Chung Young-Hee;Lee Jeong-Nyeo;Chung Woo-Yeong
    • Childhood Kidney Diseases
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    • v.7 no.1
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    • pp.52-59
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    • 2003
  • Purpose : The renin-angiotensin system(RAS) plays an important role in renal growth and development. We have studied the prevalence of renal anomalies and documented the association between karyotype and renal anomalies using IVP and ultrasonography. Furthermore, to investigate the impact of RAS gene polymorphism on renal anomaly in Turner syndrome, we examined the ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C. Methods : Cytogenetic analysis was performed in 33 Turner syndrome patients on peripheral blood lymphocytes. Ultrasonography(US) of the kidneys and collecting system and intravenous pyelography(IVP) were perfomed in all patients. Nuclear scintigraphy{Tc 99m dimercaptosuccinic acid(DMSA) scan} was also performed for the definite renal diagnosis if indicated. And, ACE I/D genotype, angiotensinogen(AGT) gene M235T, angiotensin receptor type 1(ATR) gene A1166C were examined by PCR amplification of genomic DNA samples. Results : The prevalence of renal anolmalies in Turner syndrome was 36.4%(12/33). The Karyotype 45, X was observed in 18 of the 33 girls(54.5%), of whom 8(44.4%) had renal anomalies. Mosaic karyotypes were observed in 11(33.3%) and four(12.2%) had a non-mosaic structural aberration of the X chromosome. In this group 4(25.7%) had renal anomalies. More renal anomalies were associated with the 45, X karyotype than those with mosaic/structural abnormalities of X chromosome, but the difference was not statistically significant(P>0.05). And, there was no significant differences in the RAS gene polymorphism and allele frequencies between renal anomaly group and normal group in Turner syndrome. Conclusion : The prevalence of renal anolmalies in Turner syndrome was 36.4%. There is no significant differences in the RAS gene polymorphism and allele frequencies between the renal anomaly group and the normal group in Turner syndrome.

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Polymorphisms of CDH9 and CDH10 in Chromosome 5p14 Associated with Autism in the Korean Population (한국인 자폐증과 Chromosome 5p14에 존재하는 CDH9, CDH10 유전자 다형성의 연관성 연구)

  • Lee, Ae-Ri;Park, Jung-Won;Nam, Min;Bang, Hee-Jung;Yang, Jae-Won;Choi, Kyung-Sik;Kim, Su-Kang;Chung, Joo-Ho;Kwack, Kyu-Bum
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.22 no.4
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    • pp.287-293
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    • 2011
  • Objectives : The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. Methods : Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. Results : All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. Conclusion : Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

Lifestyle intervention might easily improve blood pressure in hypertensive men with the C genotype of angiotensin II type 2 receptor gene

  • Kitaoka, Kaori;Kitade, Azusa;Nagaoka, Junko;Tsuzaki, Kokoro;Harada, Kiyomi;Aoi, Wataru;Wada, Sayori;Asano, Hiroaki;Sakane, Naoki;Higashi, Akane
    • Nutrition Research and Practice
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    • v.9 no.4
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    • pp.385-392
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    • 2015
  • BACKGROUND/OBJECTIVES: Recent studies have reported an association of the angiotensin II type 2 receptor (AT2R) 3123Cytosine/Adenine (3123C/A) polymorphism with essential hypertension and cardiovascular diseases. The purpose of the study was to investigate whether the AT2R 3123C/A polymorphism affects blood pressure for free-living hypertensive men during a 5-month intervention period. SUBJECTS/METHODS: The subjects were free-living hypertensive Japanese men aged 40 to 75 years who agreed to intervention in the period from 2004 to 2011. Detection of the AT2R 3123C/A polymorphism was determined by polymerase chain reaction. The dietary intervention was designed to decrease salt level and to increase potassium level through cooking instructions and self-monitoring of the diet. The exercise session consisted of activities such as stretching, resistance training, and walking. Blood pressure, urinary sodium and potassium excretion, dietary and lifestyle data, and non-fasting venous blood sample were collected at baseline and after the intervention period. RESULTS: Thirty nine subjects were eligible for participation and the follow-up rate was 97.4%. The C allele proportion was 57.9%. AT2R 3123C/A polymorphism was X-chromosome-linked, therefore we analyzed the C and A genotypes. At baseline, no significant differences were observed between the genotype groups. After the intervention, there were no significant differences in lifestyle habit between the groups. Nevertheless, the estimated salt excretion (g/day) was significantly decreased only in the C genotype (13.0-10.3, P = 0.031). No significant change was observed in systolic blood pressure (SBP) (mmHg) in the A genotype, but a significant decrease was observed in the C genotype (150.0-141.5, P = 0.024). CONCLUSTIONS: In the C genotype, it might be easy to improve SBP through lifestyle intervention in free-living hypertensive Japanese men, however generalization could not be achieved by the small sample size.