• Title/Summary/Keyword: deletions

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Case Deletion Diagnostics for Intraclass Correlation Model

  • Kim, Myung Geun
    • Communications for Statistical Applications and Methods
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    • v.21 no.3
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    • pp.253-260
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    • 2014
  • The intraclass correlation model has a long history of applications in several fields of research. Case deletion diagnostic methods for the intraclass correlation model are proposed. Based on the likelihood equations, we derive a formula for a case deletion diagnostic method which enables us to investigate the influence of observations on the maximum likelihood estimates of the model parameters. Using the Taylor series expansion we develop an approximation to the likelihood distance. Numerical examples are provided for illustration.

Identification of Genes Related to Fungicide Resistance in Fusarium fujikuroi

  • Choi, Younghae;Jung, Boknam;Li, Taiying;Lee, Jungkwan
    • Mycobiology
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    • v.45 no.2
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    • pp.101-104
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    • 2017
  • We identified two genes related to fungicide resistance in Fusarium fujikuroi through random mutagenesis. Targeted gene deletions showed that survival factor 1 deletion resulted in higher sensitivity to fungicides, while deletion of the gene encoding F-box/WD-repeat protein increased resistance, suggesting that the genes affect fungicide resistance in different ways.

A Program for Efficient Phasing of Three-Generation Trio SNP Genotype Data

  • Song, Sang-Hoon;Kim, Sang-Soo
    • Genomics & Informatics
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    • v.9 no.3
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    • pp.138-141
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    • 2011
  • Here, we report a computer program written in Python, which phases SNP genotypes and infers inherited deletions based on the pattern of Mendelian inheritance within a trio pedigree. When tiered trio genotypes that encompass three generations are available, it narrows a recombination event down to a region between two consecutive heterozygous markers. In addition, the phase information that is inferred from the upper trio that is formed by one of the parents and grandparents can be propagated to phase the genotypes of the lower trio that is formed by the parents and an offspring.

Test for an Outlier in Multivariate Regression with Linear Constraints

  • Kim, Myung-Geun
    • Communications for Statistical Applications and Methods
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    • v.9 no.2
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    • pp.473-478
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    • 2002
  • A test for a single outlier in multivariate regression with linear constraints on regression coefficients using a mean shift model is derived. It is shown that influential observations based on case-deletions in testing linear hypotheses are determined by two types of outliers that are mean shift outliers with or without linear constraints, An illustrative example is given.

Chromium-Induced Cytotoxicity in CHO Cells (크롬에 의한 CHO 세포의 세포독성기전에 관한 연구)

  • 기혜성;손은희;유일재;맹승희;정해원
    • Journal of Environmental Health Sciences
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    • v.22 no.4
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    • pp.77-81
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    • 1996
  • The present experiment was carried out to examine the mechanism of cytotoxicity of Chromium in CHO cells. Chromium induced chromosomal aberrations in a dose-dependent manner. The most frequent type of aberration was chromatid deletions and chromosome type exchanges were also observed. Ultrafiltrates of culture media from CHO cells treated with Chromium induced sister chromatid exchanges(SCE) in CHO cells and Chromium induced lipid peroxidation. It was suggested that indirect effect through formation of clastogenic factor(CF) as well as direct effect on DNA might contribute to the cytotoxicity of Chromium.

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Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

  • Zhang, Wei;Yang, Min;Wang, Yuanlang;Wu, Xudong;Zhang, Xiaodong;Ding, Yueyun;Yin, Zongjun
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.5
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    • pp.712-721
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    • 2020
  • Objective: The Wannan Black pig is a typical Chinese indigenous, disease-resistant pig breed with high fertility, and a crude-feed tolerance that has been bred by artificial selection in the south of Anhui province for a long time. However, genome variation, genetic relationships with other pig breeds, and domestication, remain poorly understood. Here, we focus on elucidating the genetic characteristics of the Wannan Black pig and identifying selection signatures during domestication and breeding. Methods: We identified the whole-genome variation in the Wannan Black pig and performed population admixture analyses to determine genetic relationships with other domesticated pig breeds and wild boars. Then, we identified the selection signatures between the Wannan Black pig and Asian wild boars in 100-kb windows sliding in 10 kb steps by using two approaches: the fixation index (FST) and π ratios. Results: Resequencing the Wannan Black pig genome yielded 501.52 G of raw data. After calling single-nucleotide variants (SNVs) and insertions/deletions (InDels), we identified 21,316,754 SNVs and 5,067,206 InDels (2,898,582 inserts and 2,168,624 deletions). Additionally, we found genes associated with growth, immunity, and digestive functions. Conclusion: Our findings help in explaining the unique genetic and phenotypic characteristics of Wannan Black pigs, which in turn can be informative for future breeding programs of Wannan Black pigs.

Screening of melon genotypes identifies gummy stem blight resistance associated with Gsb1 resistant loci

  • Hassan, Md Zahid;Robin, Arif Hasan Khan;Rahim, Md Abdur;Natarajan, Sathishkumar;Kim, Hoy-Taek;Park, Jong-In;Nou, Ill-Sup
    • Journal of Plant Biotechnology
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    • v.45 no.3
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    • pp.217-227
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    • 2018
  • Gummy stem blight (GSB) is one of the most destructive and economically important, soil borne diseases of melon caused by the ascomycete fungus, Didymella bryoniae throughout the world. In Korea, however, no GSB resistant genotype has been reported yet. The study aimed to identify GSB resistant melon germplasm. We screened a total of 60 genotypes including 16 lines and 44 melon cultivars collected from USA and Korea. Among the 16 melon lines, four lines including 'PI482399', 'PI140471', 'PI136170' and 'PI420145', and two Korean cultivars viz. 'Asia Papaya' and 'Supra' showed complete resistance. We were aware that both genotypic and environmental variations could influence the phenotypic screening of resistance and susceptibility. We therefore, further assessed all genotypes using 20 SSR markers. The SSR marker 'CMCT505' linked to Gsb1 in chromosome 1 perfectly grouped resistant and susceptible lines indicating that resistance is probably due to the presence of Gsb1 gene. Cloning and sequencing of resistant and susceptible Gsb1 amplicons showed that there were 32-bp deletions in resistant line and 39-bp deletions in resistant cultivar compared to susceptible one. Thus, the resistant melon lines and cultivars identified in this study could be recommended for the melon breeding program. Furthermore, the SSR marker 'CMCT505' which is tightly linked with Gsb1 could be used for molecular screening of melon germplasm.

Chromosome 3p Deletions in Korean Head and Neck Carcinomas (한국인 두경부암 환자에서 제3번 염색체 단완의 결손)

  • Son Mi-Na;Yoo Young-A;Cho Zeung-Keun;Choi Kun;Choi Jong-Wook;Kim Yeul-Hong;Kim Jun-Suk
    • Korean Journal of Head & Neck Oncology
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    • v.14 no.1
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    • pp.20-26
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    • 1998
  • Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

  • Lee, Jin Hwan;Kim, Hyo Jeong;Yoon, Jung Min;Cheon, Eun Jung;Lim, Jae Woo;Ko, Kyong Og;Lee, Gyung Min
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.19-24
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    • 2016
  • Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.