• 제목/요약/키워드: Mendelian

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Microsatellite Sequences of Mammals and Their Applications in Genome Analysis in Pigs - A Review

  • Behl, Rahul;Sheoran, Neelam;Behl, Jyotsna;Tantia, M.S.;Vijh, R.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제15권12호
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    • pp.1822-1830
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    • 2002
  • The microsatellites are the short tandem repeats of 1 to 6 bp long monomer sequences that are repeated several times. These short tandem repeats are considered to be generated by the slipped strand mispairing. Based on the unique capability of alternating purine-pyrimidine residues to form Z-DNA, the possible role of the microsatellites in gene regulation has been proposed. The microsatellites are highly polymorphic, follow Mendelian inheritance and are evenly distributed throughout the genomes of eukaryotes. They are easy to isolate and the polymerase chain reaction based typing of the alleles can be readily automated. These properties make them the preferred markers for comparison of the genetic structure of the closely related breeds/populations; very high-resolution genetic mapping and parentage testing etc. The microsatellites have rapidly replaced the restriction fragment length polymorphism (RFLP) and the random amplified polymorphic DNA (RAPD) in most applications in the population genetics studies in most species, including the various farm animals viz. cattle, buffalo, goat, sheep and pigs etc. More and more reports are now available describing the use of microsatellites in pigs ranging from measurement of genetic variation between breeds/populations, developing high resolution genetic maps to identifying and mapping genes of biological and economic importance.

Familial Mediterranean fever presenting as fever of unknown origin in Korea

  • Lee, Jun Hee;Kim, Jong Hyun;Shim, Jung Ok;Lee, Kwang Chul;Lee, Joo Won;Lee, Jung Hwa;Chae, Jae Jin
    • Clinical and Experimental Pediatrics
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    • 제59권sup1호
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    • pp.53-56
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    • 2016
  • Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient's symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.

출생시 진단된 Craniofrontonasal Dysplasia 1례 (A Case of Craniofrontonasal Dysplasia Diagnosed at Birth)

  • 노정아;노영일;문경래;박영봉;박상기;김은영
    • Clinical and Experimental Pediatrics
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    • 제46권10호
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    • pp.1044-1046
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    • 2003
  • 저자들은 신생아에서 사두증, 좌측 전두부의 돌출, 우측 전두부의 후퇴, 양안 격리증, 넓은 비근과 비첨부의 분열, 경한 발가락의 기형과 뇌량 무형성증을 보인 craniofrontonasal dysplasia 1례를 경험하였기에 보고하는 바이다.

Frequencies, Inheritance of Porcine FSH-${\beta}$ Retroposon and its Association with Reproductive Traits

  • Li, Feng'e;Xiong, Yuanzhu;Deng, Changyan;Jiang, Siwen;Zheng, Rong
    • Asian-Australasian Journal of Animal Sciences
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    • 제15권2호
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    • pp.179-183
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    • 2002
  • The fragment in intron I of FSH-${\beta}$ gene was amplified by PCR. According to the polymorphism, we analyzed the distribution of FSH-${\beta}$ retroposon in different pig breeds; its inheritance pattern in Large White${\times}$Meishan reference family; and the association of FSH-${\beta}$ retroposon with litter size, female reproductive organs measurement, ultrasonic backfat and other traits. The results showed that almost each Chinese indigenous pig had the retroposon, while foreign pig breeds rarely had; the frequencies of porcine FSH-${\beta}$ retroposon were strongly associated with breeds (p<0.01); the pattern of inheritance was consistent with Mendelian fashion; total number born (TNB) and number born alive (NBA) were increased per FSH-${\beta}$ retroposon (p<0.01) with additive effects of 1.2-1.8 and 1.4-1.8 pigs/litter, respectively; between the FSH-${\beta}$ retroposon carriers and non-carriers, there was an insignificant difference in the measurement of female reproductive organs, body weight at birth, backfat thickness, loin meat height, lean meat percentage, teat number, days to 100 kg, and average daily gain.

사람 성장호르몬 유전자를 발현하는 형질전환 생쥐의 번식성 및 형질유전 (Transmission and Reproduction of Transgenic Mice Expressing Human Growth Hormone Gene)

  • 한용만;강만종;이철상;유대열;이경광
    • 한국가축번식학회지
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    • 제14권3호
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    • pp.191-197
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    • 1990
  • The transgenic mice were produced by microinjection of human growth hormone gene fused with mouse metallothionein Ⅰ promoter. They were mated with momal mice by backcross or brother-sister mating. The reproduction efficiencies of female and male n the FO transgenic mice were 17.6%(3/17 mice) and 31.2%(5/16 mice), respectively, and were very lower than that in normal mice(85.7% and 100%, respectively). Interestingly, a few of female transgenic mice were fertile which was different from the previous reports. Of 6 fertile transgenic mice, 2 mice were identified as mosaic type by the reduced frequency of genetic transmission to successive generation below Mendelian levle and the enhanced copy numbers of transgene in progeny mice compared with the transgenic parent. In the group of F1, F2, F3 transgenic mice the reproduction efficiencies of males were gradually improved, whereas females were absolutely infertile. It was consequently shown that the transgenic mice expressing human growth hormone gene were frequently infertile, but the genotypic and phenotypic characteristics of the fertile transgenic mice were normally passed on to the progeny through herm line. Therefore it must be considered wheter or not the products of foreign DNA introduced into animals will detrimentally affect their physiological aspects.

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Resistance to Anthracnose Caused by Colletotrichum acutatum in Chili Pepper(Capsicum annuum L.)

  • Kim, Sang-Hoon;Yoon, Jae-Bok;Do, Jae-Wahng;Park, Hyo-Guen
    • Journal of Crop Science and Biotechnology
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    • 제10권4호
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    • pp.277-280
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    • 2007
  • Pepper fruit anthracnose, caused by Colletotrichum acutatum, results in serious yield loss and affects crop quality in many Asian countries, making it a disease of economic consequence. A source resistant to C. acutatum was identified by the AVRDC within the line Capsicum chinense Jacq. PBC932. The resistant breeding line C. annuum AR is the $BC_3F_6$ generation derived from C. chinense Jacq. PBC932. The inheritance of resistance to C. acutatum was analyzed in segregating populations derived from the two crosses HN 11$\times$AR and Daepoong-cho$\times$AR. Detached mature green fruits were inoculated using microinjection method. The disease response was evaluated as the disease incidence at 7 DAI. The segregation ratios of resistance and susceptibility to C. acutatum in the $F_2$ and $BC_R$ populations derived from the two crosses fit significantly to a 1:3 Mendelian model. This indicates that the resistance of AR to C. acutatum is controlled by a single recessive gene.

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Mechanisms of Uniparental Mitochondrial DNA Inheritance in Cryptococcus neoformans

  • Gyawali, Rachana;Lin, Xiaorong
    • Mycobiology
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    • 제39권4호
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    • pp.235-242
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    • 2011
  • In contrast to the nuclear genome, the mitochondrial genome does not follow Mendelian laws of inheritance. The nuclear genome of meiotic progeny comes from the recombination of both parental genomes, whereas the meiotic progeny could inherit mitochondria from one, the other, or both parents. In fact, one fascinating phenomenon is that mitochondrial DNA in the majority of eukaryotes is inherited from only one particular parent. Typically, such unidirectional and uniparental inheritance of mitochondrial DNA can be explained by the size of the gametes involved in mating, with the larger gamete contributing towards mitochondrial DNA inheritance. However, in the human fungal pathogen Cryptococcus neoformans, bisexual mating involves the fusion of two isogamous cells of mating type (MAT) a and MAT${\alpha}$, yet the mitochondrial DNA is inherited predominantly from the MATa parent. Although the exact mechanism underlying such uniparental mitochondrial inheritance in this fungus is still unclear, various hypotheses have been proposed. Elucidating the mechanism of mitochondrial inheritance in this clinically important and genetically amenable eukaryotic microbe will yield insights into general mechanisms that are likely conserved in higher eukaryotes. In this review, we highlight studies on Cryptococcus mitochondrial inheritance and point out some important questions that need to be addressed in the future.

An AFLP-based Linkage Map of Japanese Red Pine (Pinus densiflora) Using Haploid DNA Samples of Megagametophytes from a Single Maternal Tree

  • Kim, Yong-Yul;Choi, Hyung-Soon;Kang, Bum-Yong
    • Molecules and Cells
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    • 제20권2호
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    • pp.201-209
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    • 2005
  • We have constructed an AFLP-based linkage map of Japanese red pine (Pinus densiflora Siebold et Zucc.) using haploid DNA samples of 96 megagametophytes from a single maternal tree, selection clone Kyungbuk 4. Twenty-eight primer pairs generated a total of 5,780 AFLP fragments. Five hundreds and thirteen fragments were verified as genetic markers with two alleles by their Mendelian segregation. At the linkage criteria LOD 4.0 and maximum recombination fraction 0.25(${\theta}$), a total of 152 markers constituted 25 framework maps for 19 major linkage groups. The maps spanned a total length of 2,341 cM with an average framework marker spacing of 18.4 cM. The estimated genome size was 2,662 cM. With an assumption of equal marker density, 82.2% of the estimated genome would be within 10 cM of one of the 230 linked markers, and 68.1% would be within 10 cM of one of the 152 framework markers. We evaluated map completeness in terms of LOD value, marker density, genome length, and map coverage. The resulting map will provide crucial information for future genomic studies of the Japanese red pine, in particular for QTL mapping of economically important breeding target traits.

Functional Annotation and Analysis of Korean Patented Biological Sequences Using Bioinformatics

  • Lee, Byung Wook;Kim, Tae Hyung;Kim, Seon Kyu;Kim, Sang Soo;Ryu, Gee Chan;Bhak, Jong
    • Molecules and Cells
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    • 제21권2호
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    • pp.269-275
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    • 2006
  • A recent report of the Korean Intellectual Property Office(KIPO) showed that the number of biological sequence-based patents is rapidly increasing in Korea. We present biological features of Korean patented sequences though bioinformatic analysis. The analysis is divided into two steps. The first is an annotation step in which the patented sequences were annotated with the Reference Sequence (RefSeq) database. The second is an association step in which the patented sequences were linked to genes, diseases, pathway, and biological functions. We used Entrez Gene, Online Mendelian Inheritance in Man (OMIM), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Ontology (GO) databases. Through the association analysis, we found that nearly 2.6% of human genes were associated with Korean patenting, compared to 20% of human genes in the U.S. patent. The association between the biological functions and the patented sequences indicated that genes whose products act as hormones on defense responses in the extra-cellular environments were the most highly targeted for patenting. The analysis data are available at http://www.patome.net

Inheritance of Resistance to Nuclear Polyhedrosis Virus in Silkworm, Bombyx mori

  • Sen, Ratna;Ashwath, S.K.;Datta, R.K.
    • International Journal of Industrial Entomology and Biomaterials
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    • 제3권2호
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    • pp.187-190
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    • 2001
  • Inheritance pattern of resistance to Bombyx mori nuclear polyhedrosis virus (BmNPV) was studied in an Indian silkworm stock TX by single back-cross test method. The resistant parent [TX], susceptible parent [HM], their Fl, F2, and Fl progeny back-crossed to TX [BC(R)] and HM [BC(S)] were inoculated per os with a fixed concentration of BmNPV($0.5{\times}10^{th} PIB/ml$) on the first day of second stadium. The cumulative mortality was recorded until day $10^{\times}$ post-inoculation. The results show that the resistance to BmNPV in TX fellow mono Mendelian inheritance pattern. The resistance dominated over the susceptibility at Fl. At F2, the resistant and susceptible offspring segregated in 3:1 ratio whereas at BC(S), the resistant and susceptible offspring segregated in 1:1 ratio. The response of BC(R) was more or less like the resistant parent TX which confirms the involvement of a major dominant gene conferring resistance to BmNPV in TX. The possible mechanism of inheritance of resistance in TX is discussed.

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