• Title/Summary/Keyword: Population genetics

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The Dopamine D4 Receptor Polymorphism Affects the Canine Fearfulness

  • Lee, Chae-Young;Kim, Chang-Hoon;Shin, Soo-An;Shin, Dae-Sung;Kang, Joo-Hyun;Park, Chan-Kyu
    • Animal cells and systems
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    • v.12 no.2
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    • pp.77-83
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    • 2008
  • The canine fearfulness is a behavioral trait known to have a genetic basis. This research analyzed genetic effects of the dopamine D4 receptor polymorphism on this behavior by postulating a mixed model of inheritance. Genotyping for the three different repeat polymorphism found in the third exon of the receptor gene was carried out for the population of the Korean native dogs. Four hundred fifty eight dogs with known pedigree were genotyped, and 264 individuals were tested for their fear responses to an experimenter, in which four different behavioral paradigms were adopted. Since the results assessed by principal factor analysis revealed a major factor explaining 69% of the total phenotypic variance, the subsequent analyses were conducted for this quantity. Analyses of the factor scores by estimating their posterior means indicated that there is a fixed effect exerted by the three different repeat polymorphism found in the D4 receptor as well as sex, in addition to unidentified polygenic effects. The phenotypic contribution of the D4 genotype was roughly estimated to be about 2%, which is a fraction of the total genetic effects responsible for more than 20% of the total phenotypic variance.

Examination of Parameters Affecting Polymerase Chain Reaction in Studying RAPD (PCR에 의한 RAPD marker들의 증폭에 영향을 주는 조건들에 대한 고찰)

  • Yoon, Cheol-Sik
    • The Korean Journal of Mycology
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    • v.20 no.4
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    • pp.315-323
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    • 1992
  • The effects of several parameters on PCR amplification in using RAPD were studied. The results of this study suggest that approximately 15 ng of genomic DNA in $20\;{\mu}l$ of reaction mixture results in discrete and reproducible PCR products. In addition, the results indicate that concentration or amounts of reaction components studied are highly inter-dependent in their effects, and RNA can interfere severely with PCR amplification. Suitable concentrations or amounts of reaction components were found to be 30 ng of 10-mer primer, $200\;{\mu}M$ of dNTP, 0.001% gelatin 1.5 mM $MgCl_2$, 10 mM Tris-Cl (pH 8.8), 50 mM KCl, 0.1% Triton X-100, 2 units of Taq DNA polymerase, and 15 ng of RNase-treated genomic DNA in $25\;{\mu}l$ of reaction mixture.

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The Study of Synergy between the BchE-k Variant and the ApoE Gene in the Alzheimer Dementia of the Korean Population

  • Shin, Eun-Sim;Yoon, Song-Ro;Choi, Soo-Kyung;Kim, Soo-Young
    • Journal of Genetic Medicine
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    • v.3 no.1
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    • pp.29-32
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    • 1999
  • The Apolipoprotein E type 4 allele (ApoE ${\varepsilon}4$) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease. The BchE-k variant, which is the common variant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the ${\varepsilon}4$ allele of the ApoE, especially in subjects over the age of 75. This study was performed to evaluate the distribution of the ApoE and the BchE genotypes in the healthy and AD groups and to evaluate the synergy between the BchE-k variant and the ApoE ${\varepsilon}4$ in AD. The ApoE and the BchE genotypes were determined in DNA samples from 610 healthy people and 60 LOAD patients by using ARMS by standard agarose gel electrophoresis. The effect of the ApoE ${\varepsilon}4$ was closely related to AD(p<0.05). A comparison between the AD patients and the healthy individuals, both with the ${\varepsilon}4$ allele, indicated an interaction between the BchE-k and the ApoE ${\varepsilon}4$(p<0.05). The association of the BchE-k with AD was limited to carriers of the ApoE ${\varepsilon}4$ allele, among whom the presence of the BchE-k gave an odds ratio of AD 3.48 (95% C.I. 1.3-9.2). Therefore, these results suggested that further evidence of an association between the ApoE ${\varepsilon}4$ and LOAD, and the BchE-k acts in synergy with the ApoE ${\varepsilon}4$ as a susceptibility gene for AD.

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Radiation Dose from Computed Tomography Scans for Korean Pediatric and Adult Patients

  • Won, Tristan;Lee, Ae-Kyoung;Choi, Hyung-do;Lee, Choonsik
    • Journal of Radiation Protection and Research
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    • v.46 no.3
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    • pp.98-105
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    • 2021
  • Background: In recent events of the coronavirus disease 2019 (COVID-19) pandemic, computed tomography (CT) scans are being globally used as a complement to the reverse-transcription polymerase chain reaction (RT-PCR) tests. It will be important to be aware of major organ dose levels, which are more relevant quantity to derive potential long-term adverse effect, for Korean pediatric and adult patients undergoing CT for COVID-19. Materials and Methods: We calculated organ dose conversion coefficients for Korean pediatric and adult CT patients directly from Korean pediatric and adult computational phantoms combined with Monte Carlo radiation transport techniques. We then estimated major organ doses delivered to the Korean child and adult patients undergoing CT for COVID-19 combining the dose conversion coefficients and the international survey data. We also compared our Korean dose conversion coefficients with those from Caucasian reference pediatric and adult phantoms. Results and Discussion: Based on the dose conversion coefficients we established in this study and the international survey data of COVID-19-related CT scans, we found that Korean 7-year-old child and adult males may receive about 4-32 mGy and 3-21 mGy of lung dose, respectively. We learned that the lung dose conversion coefficient for the Korean child phantom was up to 1.5-fold greater than that for the Korean adult phantom. We also found no substantial difference in dose conversion coefficients between Korean and Caucasian phantoms. Conclusion: We estimated radiation dose delivered to the Korean child and adult phantoms undergoing COVID-19-related CT examinations. The dose conversion coefficients derived for different CT scan types can be also used universally for other dosimetry studies concerning Korean CT scans. We also confirmed that the Caucasian-based CT organ dose calculation tools may be used for the Korean population with reasonable accuracy.

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

  • Boo, Hyeyeon;Kim, So Yun;Seoung, Eui Sun;Kim, Min Hyung;Kim, Moon Young;Ryu, Hyun Mee;Han, You Jung;Chung, Jin Hoon
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.79-86
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    • 2018
  • Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

Changes in physicochemical property and lactic acid bacterial community during kimchi fermentation at different temperatures

  • Lee, Hee Yul;Haque, Md. Azizul;Cho, Kye Man
    • Journal of Applied Biological Chemistry
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    • v.63 no.4
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    • pp.429-437
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    • 2020
  • This study aimed to investigate the change in physicochemical properties and lactic acid bacterial communities during kimchi fermentation at different temperatures (8, 15, and 25 ℃) using two molecular genetics approaches, multiplex polymerase chain reaction and 16S rRNA gene sequencing. The pH during fermentation at 8, 15, and 25 ℃ decreased from 6.17 on the initial fermentation day to 3.92, 3.79, and 3.48 after 54, 30, and 24 days of fermentation, respectively, while the acidity increased from 0.24% to 1.12, 1.35, and 1.54%, respectively. In particular, the levels of lactic acid increased from 3.74 g/L on the initial day (day 0) to 14.43, 20.60, and 27.69 g/L during the fermentation after 24, 18, and 12 days at 8, 15, and 25 ℃, respectively, after that the lactic acid concentrations decreased slowly. The predominance of lactic acid bacteria (LAB) in the fermented kimchi was dependent on fermentation stage and temperature: Lactobacillus sakei appeared during the initial stage and Leuconsotoc mesenteroides was observed during the optimum-ripening stage at 8, 15, and 25 ℃. Lac. sakei and Lactobacillus plantarum grew rapidly in kimchi produced at 8, 15, and 25 ℃. In addition, Weissella koreensis first appeared at days 12, 9, and 6 at 8, 15, and 25 ℃ of fermentation, respectively. This result suggests that LAB population dynamics are rather sensitive to environmental conditions, such as pH, acidity, salinity, temperature, and chemical factors including free sugar and organic acids.

Characterization of Xanthomonas citri pv. glycines Population Genetics and Virulence in a National Survey of Bacterial Pustule Disease in Korea

  • Kang, In-Jeong;Kim, Kyung Seok;Beattie, Gwyn A.;Chung, Hyunjung;Heu, Sunggi;Hwang, Ingyu
    • The Plant Pathology Journal
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    • v.37 no.6
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    • pp.652-661
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    • 2021
  • Xanthomonas citri pv. glycines (Xcg) is a major pathogen of soybean (Glycine max) in South Korea, despite the availability of soybean varieties with some resistance. We conducted a nationwide survey of the incidence and severity of bacterial pustule caused by Xcg. The percentage of infected fields was 7% to 17% between 2015 and 2017. We characterized the diversity of a nationwide collection of 106 Xcg isolates based on avrBs3 banding patterns. The isolates fell into 11 groups, each represented by a type strain; only two of these were similar to isolates collected from 1999 to 2002. The diversity of Xcg strains increased and the dominant strains changed between 1999 and 2017, with three new type strains comprising 44% of the isolates examined in 2012 to 2017. Pathogenicity tests did not show evidence for a shift in the races or aggressiveness of Xcg strains. Korean soybean cultivars, including the widely-grown Daewon cultivar, were susceptible to the 11 new type strains. The cultivar CNS, which carries the rxp resistance gene, was susceptible to most type strains, including two representing 83% of the Korean Xcg strains. In contrast, Williams 82, which also carries rxp, showed resistance to at least five type strains. Collectively, these results suggest that Williams 82 has resistance loci in addition to rxp. The widespread distribution of Xcg, the high virulence of the current endemic strains, and the low resistance of most Korean soybean cultivars collectively favor widespread disease in Korea in years that are favorable to pustule development.

Characterization of the first mitogenomes of the smallest fish in the world, Paedocypris progenetica, from peat swamp of Peninsular Malaysia, Selangor, and Perak

  • Hussin, NorJasmin;Azmir, Izzati Adilah;Esa, Yuzine;Ahmad, Amirrudin;Salleh, Faezah Mohd;Jahari, Puteri Nur Syahzanani;Munian, Kaviarasu;Gan, Han Ming
    • Genomics & Informatics
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    • v.20 no.1
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    • pp.12.1-12.7
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    • 2022
  • The two complete mitochondrial genomes (mitogenomes) of Paedocypris progenetica, the smallest fish in the world which belonged to the Cyprinidae family, were sequenced and assembled. The circular DNA molecules of mitogenomes P1-P. progenetica and S3-P. progenetica were 16,827 and 16,616 bp in length, respectively, and encoded 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and one control region. The gene arrangements of P. progenetica were identical to those of other Paedocypris species. BLAST and phylogenetic analyses revealed variations in the mitogenome sequences of two Paedocypris species from Perak and Selangor. The circular DNA molecule of P. progenetica yield a standard vertebrate gene arrangement and an overall nucleotide composition of A 33.0%, T 27.2%, C 23.5%, and G 15.5%. The overall AT content of this species was consistent with that of other species in other genera. The negative GC-skew and positive AT-skew of the control region in P. progenetica indicated rich genetic variability and AT nucleotide bias, respectively. The results of this study provide genomic variation information and enhance the understanding of the mitogenome of P. progenetica. They could later deliver highly valuable new insight into data for phylogenetic analysis and population genetics.

A non-inferiority study evaluating a new extended-release preparation of tilmicosin injected subcutaneously vs. ceftiofur administered intramammary, as dry-cow therapy in Holstein Friesian cows

  • Ortega, Esteban;Alfonseca-Silva, Edgar;Posadas, Eduardo;Tapia, Graciela;Sumano, Hector
    • Journal of Veterinary Science
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    • v.21 no.6
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    • pp.87.1-87.11
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    • 2020
  • Background: A new, extended long-acting tilmicosin (TLAe) preparation was tested against intramammary ceftiofur (CEF) using a non-inferiority trial model during dry-cow therapy (DCT) in a farm with high bovine population density and deficient hygiene application. Objectives: To evaluate the possibility that TLAe administered parenterally can achieve non-inferiority status compared to CEF administered intramammary for DCT. Methods: Cows were randomly assigned to TLAe (20 mg/kg subcutaneous; n = 53) or CEF (CEF-HCl, 125 mg/quarter; n = 38 cows) treatment groups. California mastitis testing, colony-forming unit assessment (CFU/mL), and number of cases positive for Staphylococcus aureus were quantified before DCT and 7 d after calving. A complete cure was defined as no bacteria isolated; partial cure when CFU/mL ranged from 150 to 700, and cure-failure when CFU/mL was above 700. Results: TLAe and CEF had overall cure rates of 57% and 53% (p > 0.05) and S. aureus cure rates of 77.7% and 25%, respectively (p < 0.05). The pathogens detected at DCT and 7 days after calving were S. aureus (62.71% and 35.55%), Staphylococcus spp. (22.03% and 35.55%), Streptococcus uberis (10.16% and 13.33%), and Escherichia coli (5.08% and 15.55%). Non-inferiority and binary logistic regression analyses revealed a lack of difference in overall efficacies of TLAe and CEF. Apart from S. aureus, S. uberis was the predominant pathogen found in both groups. Conclusions: This study is the first successful report of parenteral DCT showing comparable efficacy as CEF, the gold-standard. The extended long-term pharmacokinetic activity of TLAe explains these results.

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

  • Koohiyan, Mahbobeh;Azadegan-Dehkordi, Fatemeh;Koohian, Farideh;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
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    • v.23 no.4
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    • pp.175-180
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    • 2019
  • Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.