• Animal cells and systems
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• v.3 no.1
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• pp.79-87
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• 1999

Mitochondrial DNA (mtDNA) from 54 specimens of the blue mussel (Mytilus edulis) species complex sampled from the southern coast of Korea was assayed for polymorphism with a portion of the COIII gene (336 bp). Fifteen haplotypes were found. PAUP, one-step networks, and PHYLIP analyses revealed the presence of two clearly differentiated mitochondrial clades (termed clades B and E), separated by 3.6% of minimum sequence divergence. The distribution pattern of the species appears to be consistent with category II of the phylogeographic pattern sensu (Avise et al., 1987): the presence of two discontinuous and distinct mtDNA genotypes in the same geographic region. This unusual mitochondrial polymorphism was explained by the presence of the Mediterranean species, M. galloprovincialis, possessing mtDNA of both M. galloprovincialis and M. edulis.

• Journal of Clinical Otolaryngology Head and Neck Surgery
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• v.29 no.2
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• pp.290-294
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• 2018

Mammary analogue secretory carcinoma (MASC) has histologic similarities to not only acinic cell carcinoma but also other low grade cystadenocarcinoma, and has similar features to breast secretory carcinoma. MASC was not described through the existing classification system previously. But, MASC was distinguished from other salivary gland tumors by Skalova et al. in 2010, MASC has ets variant gene 6-neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3) translocation. So far, there are 4 cases of MASC recognized in the head and neck region in Korea. One of the four is a tumor from the submandibular gland, and the other three are of the parotid gland. In this case report, we report a 40-year-old man with a MASC of the parotid gland, who presented with right infra-auricular mass.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.11
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• pp.7007-7010
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• 2013

Background: In the literature, data concerning the relationship between breast cancer and HLA class II gene polymorphisms are limited, so the aim of this study was to determine if HLA-DQB1 and HLA-DRB1 MHC class-II alleles may confer susceptibility or resistance to the disease among Jordanian females. Materials and Methods: This case control study enrolled 56 Royal Hospital breast cancer patients and 60 age matched healthy controls, all of whom provided blood samples (2011-2013). A questionnaire was filled after signing a consent form and DNA was extracted, nucleic acids being amplified for assessment of HLA-DQB1 and HLA-DRB1 alleles by muliplex INNO-LiPA and allele typing carried out by reverse hybridization. Comparison of HLA-DQB1 and HLA-DRB1 allele distributions was carried out with paired t-test and chi-square statistics. Risk factors were assessed by odd ratios with 95% confidence intervals. Results: A significant negative correlation was observed between $HLADQB1^*$ 02 alleles and breast cancers (p=0.013). No significant associations were observed among $HLADQB1^*$ 03, 04, 05 and 06 or among $HLA-DRB1^*$ 01, 03, 04, 07, 08, 10, 11, 13, 14 and 15. Conclusions: $HLADQB1^*$ 02 alleles may provide positive protection against breast tumor risk among Jordanians, but not $HLADQB1^*$ 03, 04, 05 and 06 or $HLA-DRB1^*$ 01, 03, 04, 07, 08, 10, 11, 13, 14 and 15 alleles.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

• Journal of Animal Science and Technology
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• v.46 no.6
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• pp.887-896
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• 2004

The present study was carried out to investigate the blood markers of Mongolian horses. The blood redcell types and blood protein types(biochemical polymorphisrns) were tested from 19 Mongolian horses by serological and electrophoretic procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were $A^{af}$(42.1%), $C^a$(89.5%), $K^-$(84.2%), $U^a$(63.2%), $P^a$(42.1%) $P^-$42.1%), $Q^c$(31.6%) $Q^-$(31.6%), $AL^{AB}$((52.6%), AI$B^K$(89.5%), $ES^1$(63.2%), $GC^F$(78.9%), $HB^BI$1(68.4%), PG$D^F$(84.2%), $TF^{FIR}$(21.1%), $TF^{F2R}$(21.1%)(21.1%), and genotypes $D^{cgm/dghm}$(15.8%), $D^{dghm/dghm}$(15.8%), $D^{ad/dghm}$(10.5%), $D^{ade/dghm}$(10.5%), in Mongolian horses, respectively. Alleles observed with high frequency were $A^a$(0.4211), $C^a$(0.8947), $K^-$(0.8421), $U^a$(0.6316), $P^a$(0.4474), $Q^c$(0.4474), $D^{dghm}$(0.4211), $AL^B$(0.6579), $AIB^K$(0.9211), $ES^I$(0.7895), $GC^F$(0.8947), $HB^{BI}$(0.7895), $PGD^F$(0.8421) and $TF^R$(0.3421) in Mongolian horses. These results present basic information for estimating the genetic relationships between the Korean native horse, and developing a system for parentage verification and individuals identification in Mongolian horse.

• Journal of Korean Society of Forest Science
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• v.95 no.1
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• pp.55-59
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• 2006

The objectives of this study, an analysis of the morphological characteristics among six provenances of a rare Rhododendron micranthum could be used for the conservation of gene resources and could provide information on superior trees selection. The following results were obtained. Approximately Mt.worak region showed larger values at petal character. On the other hand, Bonghwa region showed smaller values at petal character. Yeonha-ri region showed larger values at leaf character. On the other hand, Bonghwa region showed smaller values at leaf character. The results of principal component analysis (PCA) for morphological characteristics showed that the first for principal components(PC's) explained 41.6% of the total variation. From th third PC explained 81.5% of the total variation. The first PC was correlated with those characteristics that were mainly related to the Petal length (PL), Leaf length (LL) width (LW), Stigma length (SL). The second PC was correlated with the Petiole length (PTW), Anther length (AL). The third PC was correlated with the Flower pedicel length (FPL), Filament length (FL). Therefore, these characteristics was important to analysis of the variation for morphological characteristics among provenances of Rhododendron micranthum. Cluster analysis using single linkage method based on morphological characteristics showed that six provenances of Rhododendron micranthum could be clustered into three groups. Group I is Jicdong-ri, Group II is Mt.worak and Yeonha-ri, and Group III is Taeback, Bonghwa, and Samcheok. These results corresponded well with that of principal component analysis.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.8
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• pp.3493-3498
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• 2015

Objective: To assess associations between codon 72 polymorphisms (Pro or B and Arg or b alleles) of the TP53 gene and lung cancer risk among Bangladeshis. Materials and Methods: The distribution of the BB, Bb, and bb genotypes and the frequencies of the B and b alleles were determined by PCR-RFLP method using DNA extracted from leucocytes of 50 confirmed lung cancer patients and 50 age-matched controls and the data were analysed. Results: The ratio of BB, Bb, and bb genotypes were in Hardy-Weinberg equilibrium except for the male patients (${\chi}2=4.6$). The B allele is overrepresented among all patients (OR=2.0, p=0.02) and the female patients (OR=4.1, $p{\leq}0.01$) compared to the controls. The BB/bb ratio was also higher among the patients (OR=3.0, p=0.03). The relative risk of cancer for having BB over bb genotype was 1.8 (p=0.04) but no effect was observed for the Bb genotype. The B allele was overrepresented among patients with adenocarcinomas (OR=2.4, $p{\leq}0.01$) and squamous cell carcinomas (OR=2.7, $p{\leq}0.01$) over the controls but the difference was not significant for those with small cell lung carcinomas (OR=1.1, p=0.66). The B allele was overrepresented among patients age 50 or younger (OR=2.7, $p{\leq}0.01$), but not for older patients (OR=1.7, p=0.07), and among smokers compared to the controls (OR=1.8-10.0, $p{\leq}0.01-0.03$). However, no correlation between increasing pack-years and lung cancer was observed. Conclusions: The Pro/Pro (BB) genotype and the B allele are risk factors for lung cancer among Bangladeshis, particularly for people under age 50, women and smokers.

• Communications for Statistical Applications and Methods
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• v.16 no.1
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• pp.67-74
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• 2009

In order to make the high quality Korean cattle, it has been identified the gene markers which influence to various economic traits. To identify statistically significances among SNP markers, Lee et. al. (2008b) identified SNP(19_1)$^*$SNP(28_2) marker was an important marker in LMA(longissimus muscle dorsi area). In addition, CWT(carcass cold weight) and ADG(average daily gain) are applied for expanded multifactor dimensionality reduction (expanded MDR) method from the comprehensive economic traits. The results showed that SNP(19_1)$^*$SNP(28_2) interaction marker was good and a very meaningful for economic traits.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.68 no.3
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• pp.134-146
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• 2023

Phytophthora root rot (PRR) is a major soybean disease caused by an oomycete, Phytophthora sojae. PRR can be severe in poorly drained fields or wet soils. The disease management primarily relies on resistance genes called Rps (resistance to P. sojae). This study aimed to identify resistance loci associated with resistance to P. sojae isolate 40468 in Daepung × CheonAl recombinant inbred line (RIL) population. CheonAl is resistant to the isolate, while Daepung is generally susceptible. We genotyped the parents and RIL population via high-throughput single nucleotide polymorphism genotyping and constructed a set of genetic maps. The presence or absence of resistance to P. sojae was evaluated via hypocotyl inoculation technique, and phenotypic distribution fit to a ratio of 1:1 (R:S) (χ² = 0.57, p = 0.75), indicating single gene mediated inheritance. Single-marker association and the linkage analysis identified a highly significant genomic region of 55.9~56.4 megabase pairs on chromosome 18 that explained ~98% of phenotypic variance. Many previous studies have reported several Rps genes in this region, and also it contains nine genes that are annotated to code leucine-rich repeat or serine/threonine kinase within the approximate 500 kilobase pairs interval based on the reference genome database. CheonAl is the first domestic soybean genotype characterized for resistance against P. sojae isolate 40468. Therefore, CheonAl could be a valuable genetic source for breeding resistance to P. sojae.

• BMB Reports
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• v.31 no.6
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• pp.578-584
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• 1998

In a previous paper (Kim et al., 1996a), the immediate 5' -flanking region and coding region of the human UDP-N -acetylglucosamine:-D-mannoside-1,4-Nacetylglucosaminyltransferase III (N-acetylglucosaminyitransferase- III; GnT-III) gene was reported, isolated and analyzed. Herein, we report on amplification of a new 5' -noncoding region of the GnT-III mRNA by single-strand ligation to single-stranded cDNA-PCR (5' -RACE PCR) using poly(A)+ RNA isolated from human fetal liver cells. A cDNA clone was obtained with 5' sequences (96 bp) that diverged seven nucleotides upstream from the ATG (+1) start codon. A concensus splice junction sequence, TCTCCCGCAG, was found immediately 5' to the position where the sequences of the cDNA diverged. The result suggested the presence of an intron in the 5' -noncoding region and that the cDNA was an incompletely reversetranscribed cDNA product derived from an mRNA containing a new noncoding exon. When mRNA expression of GnT-III in various human tissues and cancer cell lines was examined, Northern blot analysis indicated high expression levels of GnT-III in human fetal kidney and brain tissues, as well as for a number of leukemia and lymphoma cancer cell lines. Promoter activities of the 5' -flanking regions of exon 1 and the new noncoding region were measured in a human hepatoma cell line, HepG2, by luciferase assays. The 5'-flanking region of exon 1 was the most active, whilst that of exon 2 was inactive.