• Title/Summary/Keyword: Mendelian genetics

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The Researches of the Korean Population Genetics (Ⅷ)Gene Analysis of the Lingual Movement (한국인의 유전학적 연구(Ⅷ) 설운동형질의 유전인자분석)

  • KANG, Yung-Sun;CHO, Wan-Kyoo;LEE, Suk-Woo
    • The Korean Journal of Zoology
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    • v.6 no.1
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    • pp.5-8
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    • 1963
  • A gene analysis study on the lingual movements in a sample of the Korean population was made. The abilities to roll and fold the tongue were tested simultaneously on 1,706 in which were included 258 of women. The results were as follows. 1) The gene frequencies of rolling and folding were estimated as GR , 0.6328 : Gr , 0.3672 ; GF, 0.6871 and Gf , 0.3129. The ability of rolling is dominant to not -rolling and not-folding trait is dominant to folding. 2) There is no interaction between genes of rolling and folding, and they inherit by the simple way of the Mendelian principle , that is , dihybrid of tongue movements reveals that the difference beetween observed and expected values is not significant.

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Parentage Testing for Thoroughbred Horse by Microsatellite DNA Typing (Microsatellite DNA형 분석을 이용한 더러브렛 말의 친자감정)

  • Cho, G.J.
    • Journal of Animal Science and Technology
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    • v.46 no.2
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    • pp.129-136
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    • 2004
  • The objective of present study was to ascertain parentage of Thoroughbred(TB) horses in Korea. A total of 2,029 TB horse samples including 993 foal samples for parentage testing were genotyped for nine international minimum standard markers(AHT4, 5, ASB2, HMS3, 6, 7, HTG4, 10, and VHL20). This method consisted of multiplexing PCR procedure, and showed reasonable amplification of all PCR products. Genotyping was performed with an ABI 310 genetic analyzer. The number of alleles per locus varied from 5 to 11 with a mean value of 7.33 in TB. Expected heterozygosity was ranged from 0.544 to 0.837(mean 0.709) and the total exclusion probability of 9 microsatellites loci was 0.9978. Of the 9 markers, ASB2, HMS7 and HTG10 loci have relatively high PIC value(>0.7). All of the 993 foals were qualified by compatibility according to Mendelian fashion in the present DNA typing for parentage testing. These results suggest that the present DNA typing has high potential for parentage verification of TB horses.

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

  • Park, Jin-Mo;Lee, Yun Jeong;Park, Jin-Sung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.97-101
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    • 2018
  • Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Genetic Polymorphisms of the Human Thyroid Peroxidase Gene Using Amplified Fragment Length Polymorphism: Application to the Determination of Paternity in a Korean Population. (한국인에서 중합효소연쇄반응을 이용한 Human Thyroid Peroxidase 유전자의 유전적 다형성에 관한 연구)

  • Kyung Ok Lee;Taek-Kyu Park;Moon-Ju Oh;Eun-Ha Kim;Young-Suk Park;Yoon Jung Kim;Kyu Pum Lee
    • Biomedical Science Letters
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    • v.1 no.1
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    • pp.9-18
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    • 1995
  • Genetic polymorphisms due to variation in the number of tandem repeats of DNA sequences(VNTRs) provides a useful means for discrimination between individuals. Allele and genotype frequencies of the highly polymorphic Human Thyroid Peroxidase(TPO) gene were determined in Korean population samples by using PCR followed by polyacrylamide gel electrophoresis, a procedure called the amplified fragment length polymorphism(Amp-FLP) technique. In 123 unrelated Korean individuals 10 different alleles and 29 genotypes were observed. The TPO gene demonstrated a heterozygosity of 0.707 and the power of exclusion(POE) was 0.945. The probability of having the same DNA band within two unrelated individuals was 14.6$\times10^{-2}$. The distribution of observed genotypes conformed to Hardy-Weinberg equilibrium($x^2$=4.48, 0.05

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Linkage Analysis of both RAPD and I-SSR Markers using Haploid Genome from a Single Tree of Pinus densiflora S. et Z. (소나무 단일(單一) 모수(母樹)의 반수체(半數體) 게놈을 이용(利用)한 RAPD 및 I-SSR 표식자(標識子)의 연관분석(連關分析))

  • Hong, Yong-Pyo;Chung, Jae-Min;Kim, Yong-Yul;Jang, Suk-Seong
    • Journal of Korean Society of Forest Science
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    • v.89 no.4
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    • pp.536-542
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    • 2000
  • A linkage map for Japanese red pine (Pinus densiflora) was constructed on the basis of two DNA marker systems of random amplified polymorphic DNAs (RAPDs) and inter-simple sequence repeats (I-SSR). Haploid genomic DNAs were extracted from megagametophyte tissues of 96 individual seeds in a single tree. A total of 98 DNA markers including 52 RAPD markers amplified by 25 primers and 46 I-SSR markers amplified by 18 primers were verified as Mendelian loci showing 1 : 1 segregation in 96 megagametophytes which were ${\chi}^2$-tested at 5% significance level. Of them, 63 segregating loci turned out to be linked into 20 linkage groups by the two-point analysis. However, 35 loci (17 RAPD and 18 I-SSR) of the 98 segregating loci did not coalesced into any linkage groups at a LOD of 3.0. The linked 63 loci were separated by an average distance of about 25.5 cM, which were spanned 1097.8 cM as a whole. The minimum and maximum map distances of the linkage groups were 4.3 cM and 54.9 cM, respectively. Incorporation of I-SSR loi into linkage map of RAPD loci resulted in extended and partially more saturated linkage blocks.

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Isolation, characterization and inheritance of polymorphic microsatellite loci in the olive flounder (Paralichthys olivaceus)

  • Kim, Woo-Jin;Kim, Kyung-Kil;Lee, Jeong-Ho;Park, Doo-Won;Park, Jung-Youn;Lee, Jong-Yun
    • Proceedings of the Korean Aquaculture Society Conference
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    • 2003.10a
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    • pp.20-20
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    • 2003
  • We described the isolation, characterization and inheritance of twenty-seven microsatellite loci from olive flounder, Paralichthys olivaceus. All loci were found to be polymorphic, and had between five and 22 alleles with observed heterozygosity ranging from 0.161 to 1.0 in 31 individuals examined. Allele segregation patterns of all loci in controlled crosses of flounder were studied to assess the inheritability. Allele of all but 3 loci were segregated according to Mendelian transmission. However, 3 loci had a possibility of scoring errors of heterozygous individuals caused by unreproducible PCR amplification of a particular allele. 24 microsatellite loci are likely to be useful for studies of genome mapping, mating systems and population genetics in this species.

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Microsatellite DNA Typing Using 16 Markers for Parentage Verification of the Korean Native Horse

  • Cho, G.J.;Cho, B.W.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.6
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    • pp.750-754
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    • 2004
  • This study was performed for parentage verification of the Korean native horse (KNH). 103 random KNH samples (including 19 foals for parentage testing) were genotyped by using 16 microsatellite markers. The number of alleles per locus varied from 5 to 13 with an average value of 8.56 in the KNH. The observed heterozygosity and the expected heterozygosity ranged 0.398-0.893 (the average value was 0.683) and 0.368-0.871 (the average value was 0.727) in the KNH, respectively. The PIC value and the exclusion probability ranged 0.347-0.853 (the average value was 0.692) and 0.208-0.736, respectively, and the total exclusion probability of 16 microsatellite loci was 0.9999. Of the 16 markers, AHT4, AHT5, ASB2, ASB17, HMS2, HMS3, HTG10, LEX33, TKY321 and VHL20 loci have a relatively high PIC value (>0.7) in the KNH. Of the 19 foals, 5 foals were disqualified by an incompatibility of 4-7 markers according to a Mendelian fashion in the present DNA typing for parentage testing. These results present basic information for developing a system for parentage verification and individual identification in the KNH.

A Study on the College Science Students' and Science Teachers' Understaning of Chromosome Behavior (대학생들과 과학교사들의 염색체 행동의 이해에 관한 연구)

  • Cho, Jung-Il;Kim, Kyoung-Joo
    • Journal of The Korean Association For Science Education
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    • v.13 no.2
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    • pp.219-229
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    • 1993
  • The purpose of this study is to investigate college science students' and science teachers' understanding of chromosomal behavior in the context of cell division. The research problems were as follows: 1. What is the level of college science students' understandings of chromosomal behaviors? 2. What is the level of science teachers' understandings of chromosomal behaviors? 3. What is the level of understanding by grade and major area? The sample consisted of 28 sophomore, 17 junior and 23 senior biology students; and 23 middle school science teachers and 14 high school biology teachers. The instrument of the study was a short answer required paper and pencil test. The results of the study were as follows: 1) About 15 percent of the sample could not count the number of chromosome in a cell in appropriate. 2) Seventy percent of the students, and 80 percent of the teachers identified homologous chromosomes as ones with the similar shape and size, and 30 percent of the whole sample could not pair two homologous chromosomes. 3) About 70 percent of the students and 30 percent of the teachers could not mark corresponding allele on chromosome. 4) Biology major students showed higher understanding of overall chromosomal behaviors than non Biology students. Based upon the results, some implications were made. The major one was a development of a teaching model in which students can improve the ability to connect chromosome theory to mendelian genetics.

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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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    • v.59 no.sup1
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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.

A Case of Parentage Testing in Dog by Microsatellite DNA Typing (Microsatellite DNA형에 의한 개의 친자감정예)

  • 조길재;조병욱;이길왕;김선구;김용균
    • Journal of Life Science
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    • v.13 no.4
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    • pp.416-420
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    • 2003
  • We performed this study to determine the parentage verification of putative dogs. A total of 7 samples (4 Labrador Retriever dog and 3 Poongsan dog) were genotyped by using 12 international markers (PEZ1, PEZ5, PEZ8, PEZ10, PEZ11, PEZ12, PEZ17, PEZ20, PEZ21, FHC2010, FHC2054, FHC2079). This methods consisted of multiplexing PCR procedures, and it showed reasonable amplification of all PCR products. Genotyping was performed with an ABI 310 genetic analyzer. Labrador Retriever Pup I and Pup II were included according to principles of Mendelian genetics in all loci, while Poongsan Pup III was excluded with markers PEZ1 (106/118), PEZ10 (276/300), and FHC2010 (228/232). These results suggest that the present DNA typing is so useful for parentage verification of these two breeds.