• Title/Summary/Keyword: Mendelian

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Mining Proteins Associated with Oral Squamous Cell Carcinoma in Complex Networks

  • Liu, Ying;Liu, Chuan-Xia;Wu, Zhong-Ting;Ge, Lin;Zhou, Hong-Mei
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.8
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    • pp.4621-4625
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    • 2013
  • The purpose of this study was to construct a protein-protein interaction (PPI) network related to oral squamous cell carcinoma (OSCC). Each protein was ranked and those most associated with OSCC were mined within the network. First, OSCC-related genes were retrieved from the Online Mendelian Inheritance in Man (OMIM) database. Then they were mapped to their protein identifiers and a seed set of proteins was built. The seed proteins were expanded using the nearest neighbor expansion method to construct a PPI network through the Online Predicated Human Interaction Database (OPHID). The network was verified to be statistically significant, the score of each protein was evaluated by algorithm, then the OSCC-related proteins were ranked. 38 OSCC related seed proteins were expanded to 750 protein pairs. A protein-protein interaction nerwork was then constructed and the 30 top-ranked proteins listed. The four highest-scoring seed proteins were SMAD4, CTNNB1, HRAS, NOTCH1, and four non-seed proteins P53, EP300, SMAD3, SRC were mined using the nearest neighbor expansion method. The methods shown here may facilitate the discovery of important OSCC proteins and guide medical researchers in further pertinent studies.

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence (De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예)

  • Lee, Soon Min;Park, Min Soo;Park, Kook In;Namgung, Ran;Lee, Chul;Lee, Jin Seong;Lee, Kyung A;Choi, Jong-Rak
    • Clinical and Experimental Pediatrics
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    • v.52 no.5
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    • pp.603-606
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    • 2009
  • The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

Ear Type and Coat Color on Growth Performances of Crossbred Pigs

  • Choy, Y.H.;Jeon, G.J.;Kim, T.H.;Choi, B.H.;Chung, H.W.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.8
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    • pp.1178-1181
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    • 2002
  • Records from a total of 202 crossbred pigs were classified by their ear type and coat color to examine the presence of interrelationships with growth performances. Crossbred pigs were F2 generations of full sib family out of ten Landrace sows bred by 5 Korean domestic boars. Heavily drooped ear type was predominant, 195 out of 202 pigs over the other two types (1 straight and 6 slightly drooped). Coat colors were classified as four categories, all white, all black, dominant white or dominant black. Ratio among coat color categories did not fall within Mendelian principle of independence regarding two loci involved. There was dependency between ear type and coat color. However, due to rarity of ear types other than heavy drooped, dependency comes from distribution of those rare ear types. Three least squares models to test the effect of ear type and coat colors on growth performances were analyzed. First model analyzed effects on birth weight, body weight at 3 and 6 weeks and ADG' before weaning and between 3 and 5 weeks of age. This model included sex in addition to ear type and coat color. Second model analyzed postweaning growth traits (initial weight, final weight and ADG between these periods) upon initiation of performance testing. This model included effects of sex, test group and start age (as a covariate) in addition. Third model was fit for fasted weight before slaughter and included the effects of sex, test group and age at slaughter (as a covariate). The effects of sex and ear type were not significant source of variation for all traits. Test group was a significant source of variation for all the postweaning traits. Effect of coat color was not significant until the initiation of performance testing and became significant then after. Least squares means of dominantly black pigs were significantly lower than the other three coat colored pigs in final weight around 195 days of age and in ADG from the start of performance test and final weight measure.

Phenotypic diversity, major genes and production potential of local chickens and guinea fowl in Tamale, northern Ghana

  • Brown, Michael Mensah;Alenyorege, Benjamin;Teye, Gabriel Ayum;Roessler, Regina
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.10
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    • pp.1372-1381
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    • 2017
  • Objective: Our study provides information on phenotypes of local chickens and guinea fowl and their body measures as well as on major genes in local chickens in northern Ghana. Methods: Qualitative and morphometric traits were recorded on 788 local chickens and 394 guinea fowl in urban households in Tamale, Ghana. Results: The results showed considerable variation of color traits and numerous major genes in local chickens, while color variations and related genotypes in guinea fowl were limited. In local chickens, white was preferred for plumage, whereas dark colors were preferred for beak and shanks. More than half of the chickens carried at least one major gene, but the contributions of single gene carriers were low. All calculated allele frequencies were significantly lower than their expected Mendelian allele frequencies. We observed higher mean body weight and larger linear body measures in male as compared to female chickens. In female chickens, we detected a small effect of major genes on body weight and chest circumference. In addition, we found some association between feather type and plumage color. In guinea fowl, seven distinct plumage colors were observed, of which pearl grey pied and pearl grey were the most prevalent. Male pearl grey pied guinea fowl were inferior to pearl grey and white guinea fowl in terms of body weight, body length and chest circumference; their shank length was lower than that of pearl grey fowl. Conclusion: Considerable variation in qualitative traits of local chickens may be indicative of genetic diversity within local chicken populations, but major genes were rare. In contrast, phenotypic and genetic diversity in local guinea fowl is limited. Broader genetic diversity studies and evaluation of trait preferences of local poultry producers are required for the design of appropriate breeding programs.

Expression of the Transgene is Consistently Inherited to High Numbers of Generations and Independent on Its Source

  • Zheng, Zhen-Yu;Oh, Keon-Bong;Koo, Deog-Bon;Han, Yong-Mahn;Lee, Kyung-Kwang
    • Reproductive and Developmental Biology
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    • v.32 no.1
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    • pp.39-43
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    • 2008
  • Most studies on transgenic bioreactors have focused on expression levels of interest genes. In this study we examined whether transgenic bioreactors would inherit expression level of the Oansgene to long-term generations independently of transgene sources. We employed three transgenic mice, which were separately reported, carrying different transgenes and copy numbers, 27 kb of hLF and 22 kb of hIL-10 genomic sequences, and 1.3 kb of hTPO cDNA, respectively. Three females of the transgenic lineages crossbred with a wild-type male up to 20 generations to test transgenic frequencies of their progenies and to determine expression levels of the transgenes. Ultimately, transmission rates of kLF, hIL-10, and hTPO were $64.3{\pm}7.0$, $59.3{\pm}9.8$, and $56.1{\pm}9.7$, respectively, appeared following Mendelian pattern of inheritance. Notably, we found that levels of expressions of hLF, hIL-10, and hTPO in milk were sustained to high numbers of generations. No transgene silencing of expression was observed in every generations of all transgenic mice. In conclusion, we suggest that once established animal bioreactors could consistently transmit the transgene to continual generations, without loss of expressional activity, independently of transgene sources.

Relationships between Dapsone Metabolic Activity and Polymorphism of Arylamine N-acetyltransferase 2 in the F2 Hybrid Rats (잡종 2세대(Fischer 계: Wistar-Kyoto 계) 흰쥐에서 Arylamine N-acetyltransferase 2의 다형성과 Dapsone의 대사능과의 연관성에 대한 연구)

  • 신인철;강주섭;고현철;이창호;안동춘;백두진;심성한;조율희
    • Biomolecules & Therapeutics
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    • v.10 no.3
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    • pp.193-199
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    • 2002
  • The arylamine N-acetyltransferases (NATs) are a family of enzymes that N-acetylate mylhydrazines and arylamines through transfer of an acetyl group from acetyl coenzyme A. This activity was found to vary among individuals as a Mendalian trait and the basis of the genetic differences in human NAT activity is one of the best of the genetic studied examples of pharmacogenetic variation. The classical N-acetylation polymorphism is regulated at the NAT2 locus, which segregates individuals into rapid, intermediate, and slow acetylator phenotypes. In this study, the relationship between NAT2 activity phenotype using HPLC:UV assay for the determination of dapsone and monoacetyldapsone in plasma and NAT2 genotype by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) was investigated in the F2 hybrid (Fischer 344 vs Wistar-Kyoto) rats. Three Common mutant alleles at the NAT2 gene locus have been identified in the F2 generation progeny of Fischer 344 rats as raid acetylator and Wistar-Kyoto rats as slow acetylator segregated into three modes (low, intermediates, and high) with simple Mendelian inheritance. The metabolic activity of NAT2 of the intermediate and rapid acetylators is significant1y greater than slow acetylator, but the metabolic activity of rapid acetylator is not significantly different from Intermediate type. Therefore, we could observe that complete trimodal NAT2 genotypic alleles and incomplete trimodal NAT2 metabolic phenotypic distribution in tile F2 hybrid rats. These observations suggest that the relationships between NAT2 genotype and metabolic phenotype exists and F2 hybrid (Fischer 344: Wistar-Kyoto) animal models about NAT2 polymorphism might be applied in the toxicity and pharmacogenetic studies of arylamine drugs and carcinogens.

Transmission of Bovine $\beta-Casein/Human$ Lactoferrin Fusion Gene in Transgenic Cattle

  • Han Yong-Mahn;Koo Deog-Bon;Park Jung-Sun;Kim Young-Hun;Lee Kea-Joung;Lee Kyung-Kwang
    • Reproductive and Developmental Biology
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    • v.29 no.4
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    • pp.235-239
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    • 2005
  • This study was conducted to test whether the transgenic cattle pass the transgene to their progeny through germ cells, and whether the transgene is expressed in the mammary gland of ransgenic cows. Two male ransgenic calves were born from IVF-derived embryos injected with bovine $\beta-casein/human$ lactoferrin fusion gene and then grew up to be reproducible. Semen was collected from a transgenic bull after 18 mon of age and then frozen. Bovine oocytes matured in vitro were fertilized with spermatozoa of the transgenic bull and cultured in $50\;{\mu}L$ drops of CRlaa medium supplemented with 3 mg/mL BSA. After 48 h of culture, cleaved embryos were determined for the presence of transgenes by DNA polymerase chain reaction (PCR). Proportion of transgene positives among bovine embryos fertilized with sperm of the transgenic bull was $20.9\%$ (28/134). One of transgenic bulls did not produce transgenic sperm. Out of 34 calves produced from recipient heifers inseminated with semen of the other bull, 3 $(8.8\%)$ were transgenic animals (2 females and 1 male). Thus, one transgenic bull showed a low transmission frequency below Mendelian levels in both the IVF-derived embryos and his progeny. It was demonstrated by Southern blot that copy numbers of the transgene in the transgenic progeny enhanced about 1.8 times as compared to those of the founder bull The results demonstrate that the transgenic bull carrying human lactoferrin gene could pass his transgene to the progeny through germ cells, although he is a germ-line mosaic.

Expression of Phosphinothricin Acetyltransferase Gene in Transgenic Rice Plants (형질전환체 벼에서 phosphinothricin acetyltransferase 유전자 발현)

  • Lee, Soo-In;Lee, Sung-Ho
    • Journal of Life Science
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    • v.14 no.2
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    • pp.368-373
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    • 2004
  • We have obtained fertile transgenic rice plants resistant to the broad spectrum herbicide Bast $a^{(R)}$ (active ingredient phosphinothricin, PPT) by PEG-mediated transformation procedure. The plasmid pCaMV35S::Bar was used to deliver the bar gene into embryogenic suspension culture-derived protoplasts of rice (Oryza sativa L.). Transformed plants were regenerated and selected on medium containing 15 mg/l of phosphinothricin. Stable integration and expression of the bar gene in transgenic rice plants was confirmed by Southern and Northern blot analysis. Transgenic $R_1$ plants were also confirmed by assays for phosphinothricin acetyltransferase (PAT) activity. The bar gene was expressed in the primary transgenic rice plants and in the next generation progeny, in which it showed a 3 : 1 Mendelian inheritance pattern. Transgenic $R_1$ and $R_2$ plants were resistant to the herbicide Bast $a^{(R)}$ when sprayed at rates used in field practice.ice.

Isolation and inheritance of microsatellite loci for the oily bittering (Acheilognathus koreensis): applications for analysis of genetic diversity of wild populations

  • Kim, Woo-Jin;Kong, Hee-Jeong;Shin, Eun-Ha;Kim, Chi-Hong;Kim, Hyung-Soo;Kim, Young-Ok;Nam, Bo-Hye;Kim, Bong-Seok;Lee, Sang-Jun;Jung, Hyung-Taek
    • Animal cells and systems
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    • v.16 no.4
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    • pp.321-328
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    • 2012
  • The oily bittering Acheilognathus koreensis is a freshwater species that is endemic to Korea and is experiencing severe declines in natural populations as a result of habitat fragmentation and water pollution. For the conservation and restoration of this species, it is necessary to assess its genetic diversity at the population level. We developed 13 polymorphic microsatellite loci that were used to analyze the genetic diversity of two populations collected from the Kum River and the Tamjin River in Korea. All loci exhibited Mendelian inheritance patterns when examined in controlled crosses. Both populations revealed high levels of variability, with the number of alleles ranging from 3 to 20 and observed and expected heterozygosities ranging from 0.500 to 0.969 and from 0.529 to 0.938, respectively. None of the loci showed significant deviation from Hardy-Weinberg equilibrium, and one pair of loci showed significant linkage disequilibrium after Bonferroni correction. Pairwise $F_{ST}$ and genetic distance estimation showed significant differences between two populations. These results suggest that the microsatellites developed herein can be used to study the genetic diversity, population structure and conservation measure of A. koreensis.

Myositis Ossificans Progressiva - Two Cases Report - (진행성 골화성 근염 - 2예 보고 -)

  • Park, Byeong-Mun;Kim, Dong-Soo;Ko, Young-Kwan;Song, Kyung-Sub;Jeon, Kwang-Pyo;Yoon, Hyung-Ku;Moon, Chan-Sam
    • The Journal of the Korean bone and joint tumor society
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    • v.8 no.2
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    • pp.63-67
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    • 2002
  • Myositis ossificans progressiva, also known as 'fibrodysplasia ossificans progressiva' is a rare disorder, most probably inherited as a mendelian dominant trait with irregular penetrance. It is characterized by congenital malformations of the great toes and progressive edema, calcification and ossification of the fasciae, aponeurosis, ligaments, tendons, and connective tissue in interstitial tissues of skeletal muscle. The basic defect is in the connective tissue, whereas the skeletal muscle remains fundamentally normal. We report two cases of a brother and sister whose the disorder is involved in a same family.

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