• Title/Summary/Keyword: Insertion and Deletion

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Genetic Identification and Phylogenic Analysis of New Varieties and 149 Korean Cultivars using 27 InDel Markers Selected from Dense Variation Blocks in Soybean (Glycine max (L.) Merrill) (변이밀집영역 유래 27개 InDel 마커를 이용한 콩(Glycine max (L.) Merrill) 신품종 판별 및 국내 149 품종과 유연관계 분석)

  • Chun, JaeBuhm;Jin, Mina;Jeong, Namhee;Cho, Chuloh;Seo, Mi-Suk;Choi, Man-Soo;Kim, Dool-Yi;Sohn, Hwang-Bae;Kim, Yul-Ho
    • Korean Journal of Plant Resources
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    • v.32 no.5
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    • pp.519-542
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    • 2019
  • Twenty soybean cultivars developed recently were assessed using 27 insertion and deletion (InDel) markers derived from dense variation blocks (dVBs) of soybean genome. The objective of this study is to identify the distinctness and genetic relationships among a total of 169 soybean accessions including new cultivars. The genetic homology between 149 accessions in the soybean barcode system and 20 new cultivars was 61.3% on average with the range from 25.9% to 96.3%, demonstrating the versatile application of these markers for cultivars identification. The phylogenic analysis revealed four subgroups related to their usage. The 80% of cultivars for vegetable and early maturity and the 65.9% of cultivars for bean sprouts were clustered in subgroup I-2 and II-2, respectively, indicating of the limited gene pools of their crossing parents in breeding. On the other hands, the cultivars for soy sauce and tofu with considerable gene flow by genome reshuffling were distributed evenly to several subgroups, I-1 (44.4%), I-2 (26.4%) and II-2 (23.6%). We believe that the 27 InDel markers specific to dVBs can be used not only for cultivar identification and genetic diversity, but also in breeding purposes such as introduction of genetic resources and selection of breeding lines with target traits.

Prognostic Factors in Children with Henoch-$Sch{\ddot{o}}nlein$ Purpura Nephritis (소아 Henoch-$Sch{\ddot{o}}nlein$ 신염의 예후 인자)

  • Choi Hyun Jin;Cho Hee Yeon;Kim Eo Jin;Lee Byong Sop;Kang Hee Gyung;Ha Il Soo;Cheong Hae Il;Choi Yong
    • Childhood Kidney Diseases
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    • v.9 no.2
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    • pp.183-192
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    • 2005
  • Purpose : The long term disease course and prognostic factors were evaluated in childhood Henoch-$Sch{\ddot{o}}nlein$ puruura nephritis(HSPN). Methods : A total of 75 children(44 boys and 31 girls) with HSPN were included in this study. The onset age was $8.0{\pm}3.1$ years(2.3-l5.3 years), and the follow-up period was $4.3{\pm}3.6$ years(1.0-17.1 years). Kidney biopsy was done in 24 children(32$\%$). Initial clinical and laboratory findings were evaluated. In addition, polymorphisms of the renin angiotensin system(RAS) genes(insertion/deletion in intron 16 of ACE gene, M235T in AGT gene, and A1166C in AGTR gene) were analysed. The initial and last clinical states were classified into 4 groups as follows A, normal; B, minor urinary abnormalities; C, active renal disease (nephrotic-range proteinuria and/or hypertension with serum creatinine $\leq$1.5 mg/dL); D, renal insufficiency. Results : At the onset, the clinical states of the patients were B in 26(35$\%$), C in 46(61$\%$), and D, in 3(4$\%$). The distribution of the RAS gene polymorphism of HSPN were not different from that of 100 healthy control subjects. At the last follow-up, the clinical states of the patients were A in 23(31$\%$), B in 38(50$\%$), C in 9(12$\%$), and D in 5(7$\%$). A multiple logistic regression identified age at the onset and initial urine protein excretion as significant prognostic factors. Analysis of genotypes of the 3 RAS genes as prognostic values revealed no statistical significance. Conclusion : Older age at onset and severe proteinuria were identified as poor prognostic factors of childhood HSPN. Implication of the RAS gene polymorphism In HSPN could not be validated in this small-scale retrospective study. (J Korean Soc Pediatr Nephrol 2005;9:183-192)

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Chromosomal analyses of 4,500 cases of the peripheral blood : An experience in a single hospital for 25 years (말초혈액을 이용한 핵형 분석 4,500례 : 단일기관에서의 25년간의 경험)

  • Seo, Hye-Eun;Lee, Ji Hye;Kim, Ji Yoon;Lee, Dong Ha;Lee, Heung Kyo;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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    • pp.875-881
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    • 2007
  • Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

Cloning and Expression of Bacillus thuringiensis crylAa1 Type Gene. (Bacillus thuringiensis crylAa1 Type Gene의 클로닝과 발현)

  • 이형환;황성희;권혁한;안준호;김혜연;안성규;박수일
    • Microbiology and Biotechnology Letters
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    • v.32 no.2
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    • pp.110-116
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    • 2004
  • The over-expression in E. coli of the pHLN1-SO(+) and pHLN2-80(-) plasmids cloned an insecticidal crystal protein (ICP) gene (crylAal type) from Bacillus thuringiensis var. kurstaki HD 1 was investigated through in part, the deletion of -80 bp promoter and an alternative change of cloning vector system. Two recombinant plasmids were constructed in an attempt to analyze the over-expression of the ICP in relations to its gene structure possessing only -14 bp [Shine-Dalgarno (SD) sequence of -80 bp promoter]. Also, anther two recombinant plasmids similarly cloned the icp gene in a different vector system. The amounts of ICP produced from the recombinants were measured by SDS-PAGE and confirmed by Western blot analysis. One clone, pHLRBS1-14 clone in which only the SD sequence in the inverted orientation icp gene appeared, was more evident than the pHLRBS2-14 clone in which only the -14 bp SD sequence of the right orientated icp gene was shown to exist. The pHLN2-80(-) clone produced more ICP proteins than the pHLRBS1-14 clone. In the two clones, pHLNUC1-80 right-oriented icp gene and the pHLNUC2-80 clone inverted-orientation icp gene in a new different vector, the pHLNUC2-80 produced more ICP proteins in E. coli system. These results indicate that the P/ac promoter, the inverted icp gene insertion and -80 bp promoter (-66 bp part of the icp gene promoters), were concerned with the expression of the icp gene in the recombinant plasmids. In addition, the expression mechanism might result from the disruption of the transcription-suppressing regions in the promoter regions.

Association between Genotypes of the Isocitrate Dehydrogenase 3, beta subunit (IDH3B) Gene and Carcass Traits in an F2 Crossbred Population of Landrace × Jeju (Korea) Black Pigs (제주흑돼지와 랜드레이스 교배 2세대의 도체형질과 IDH3B 유전자형의 상관관계)

  • Kang, Yong-Jun;Jeong, Dong Kee;Cho, In-Cheol;Han, Sang-Hyun
    • Journal of Life Science
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    • v.26 no.4
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    • pp.414-418
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    • 2016
  • This study tested the association between genetic polymorphisms of the isocitrate dehydrogenase 3, beta subunit (IDH3B) gene and economic traits in an F2 crossbred population of Landrace × Jeju (South Korea) Black pigs. A 304-bp insertion/deletion mutation in promoter region was screened for determining genotypes of the IDH3B gene in a total of 1,105 F2 pigs. Three genotypes (AA, AB, and BB) were identified in the founder, F1, and F2 populations. Association analysis showed significant differences in carcass weights (CW), backfat thicknesses in three positions of the body (4th-5th ribs, BF5; 11th-12th ribs, BF12; 13th rib-1st lumbar, BFL), and carcass lengths (CL) (p<0.05), but not in meat color (MC), eye muscle area (EMA), or marbling scores (MARB) (p>0.05). The F2 IDH3B BB homozygotes showed heavier CW (80.790±0.725 kg) and shorter CL (101.875±0.336 cm) than the other genotypes (p<0.05). In addition, the BF levels between the 4th - 5th and 11th - 12th vertebrae were thicker in the carcasses of pigs with the IDH3B BB genotype than with the other genotypes (p<0.05). These results suggested that genetic variations in the IDH3B gene may serve as molecular genetic markers for improving the Landrace × Jeju Black pig crossbreeding systems.

Regulatory Characterization of xylA Promoter Region in Escherichia coli (대장균의 xylA 프로모터 영역의 조절 특성)

  • Kang, Byung-Tae;Roh, Dong-Hyun;Joo, Gil-Jae;Rhee, In-Koo
    • Applied Biological Chemistry
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    • v.39 no.6
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    • pp.443-448
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    • 1996
  • In order to investigate the function of xylA promoter(Pxyl) as regulatory region Pxyl-lacZ fusion gene was constructed by the insertion of xylA promoter to the multiple cloning site of upstream of lacZ gene in a multicopy numbered plasmid pMC1403 containing promoterless lac operon, which was designated pMCX191, and Pxyl-lacZ fragment from pMCX191 was inserted to low copy numbered plasmid pLG339, designated pLGX191. The expressions of ${\beta}-galactosidase$ in these recombinant plasmids containing Pxyl-lacZ fusion gene were induced strongly by the addition of xylose, repressed by the addition of 0.2% glucose in the presence of xylose. The catabolite repressions were derepressed by the addition of 1 mM cAMP as same as native xylA gene. The fragment of xylA promoter was partially deleted from the upstream of xylA promoter by exonuclease III to investigate the regulation site of xylA promoter and the degrees of deletion derivatives of xylA promoter were analyzed by the DNA base sequencing. By the investigations of the induction by xylose, repression by glucose and derepression by cAMP on xylose isomerase production, the regulation site of xylA promoter may be located in segment between -165 and -59 bp upstream from the initiation site of xylA translation.

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