• 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.

• Korean Journal of Breeding Science
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• v.40 no.3
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• pp.223-227
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• 2008

In rice, tillering is an important trait determining yield. To study tillering at the agricultural and molecular aspects, we have examined a spontaneous rice mutant that showed reduction in the number of culms. The mutant was derived from a $F^6$ line of the cross of Junambyeo*4 / IR72. It could produce, on average, 4 tillers per hill in the paddy field while wild-type plants usually have 15. Except the reduced culm numbers, they also show pale green phenotypes. The phenotypes of this mutant were co-segregated as the monogenic Mendelian ratio (${\chi}^b=0.002$, p=0.969). In order to locate a gene responsible for the rcn phenotype, the mutant with the japonica genetic background was crossed with Milyang21 of the indica background. Bulked segregant analysis was used for rapid determination of chromosomal location. Three SSR markers (RM551, RM8213, and RM16467) on chromosome 4 were genetically associated with the mutant phenotype. Each of the 217 $F_2$ plants was genotyped with simple sequence length polymorphisms. The data showed that RM16572 on chromosome 4 was the closest marker that showed perfect co-segregation among the $F_2$ population. We suggest the new rcn gene studied here name as $rcn10^t$ because there was no report which exhibit a rcn phenotype with a pleiotropic effect of pale green (chlorophyll deficiency), and mapped at same position on chromosome 4.

• Korean Journal of Plant Resources
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• v.17 no.3
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• pp.265-271
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• 2004

Genetic variation is the basis of crop improvement. Limited genetic diversity in a crop species may restrict the amount of genetic improvement that can be achieved through plant breeding. Soybean is one of the world's most important crops. A potential source of genetic variability for the cultivated soybean is the wild species G. soja Sieb. ＆amp; Zucc. Amplified fragment length polymorphism (AFLP) analysis is a PCR-based technique, which can detect a 10-fold greater nubmer of loci than other DNA marker analysis. Twenty cultivated soybeans and two-hundred wild soybeans were used to determine genetic vatiations by AFLPs and evaluate the usefulness of AFLPs as DNA markers. Six-hundred and ten fragments were detected with an average of 56 AFLP fragments produced per primer in a total of 11 AFLP primer pairs. The number of polymorphic loci detected per primer ranged from 7 to 20 and the polymorphism was greater in wild than in cultivated soybean. F$_2$ segregation analysis of four AFLP fragments in combination of Hwaeomputkong ${\times}$ PI 417479 indicated that they segregate as stable Mendelian loci with 3 : 1. This results strongly suggest that the AFLP analysis is a good technique for the detection of genetic polymorphism in a wide plant species.

• Korean Journal of Breeding Science
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• v.42 no.2
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• pp.188-194
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• 2010

This experiment was conducted to characterize the inheritance of petal color, flower-eye color, flower shape, leaf variegation pattern, and leaf-end shape in Cyclamen persicum. The segregation of $F_2$ and backcross populations from crosses between inbred lines was tested for Mendelian inheritance mode. From four different combinations of crosses, it was found that the petal color was controlled by a single incomplete dominant gene. The other characters, flower-eye color, flower shape, leaf variegation pattern and leaf-end shape were confirmed to be controlled by single complete dominant genes.

• Korean Journal of Breeding Science
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• v.43 no.5
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• pp.375-382
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• 2011

A chemical, MNU-induced hulless barley mutant line designated as 'Mutant 98 (M98)' was developed from a Korean hulless waxy barley cultivar, 'Chalssalbori'. The objective of the study was to determine the genetic basis of 'M98' and the possibility of using 'M98' as breeding parent to improve lysine level. Compared to 'Chalssalbori', 'M98' had large embryo and higher lysine content in both the embryo and endosperm. Significantly different lysine content in 'M98' and the other high-lysine barley mutant stocks was observed for two years. However, the genotype by year interaction was not significant. 'M98' was higher than the other high-lysine barley mutant stocks in the percentage of lysine of total amino acid composition (0.75%). The trait of shrunken endosperm of 'M98', which was typical in the high-lysine mutants, was inherited by a single recessive gene. Based on seed morphology and lysine content of $F_1$ seeds, 'M98' had a genetically different gene from the other high-lysine mutants for shrunken endosperm. Segregation of $F_2$ for plump/shrunken endosperm did not fit the expected ratio of Mendelian inheritance except for only one cross combination (GSHO1784 (lys1)/M98). The amino acid analysis of $F_5$ and $F_6$ progenies from the cross between 'M98' and 'Chalssalbori' revealed that the attempt to increase the range of lysine content of plump lines did not go beyond the limit of the average high-lysine barley germplasm.

• Animal Bioscience
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• v.36 no.9
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• pp.1327-1335
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• 2023

Objective: When evaluating individuals with the same parent and no phenotype by pedigree best linear unbiased prediction (BLUP), it is difficult to explain carcass grade difference and select individuals because they have the same value in pedigree BLUP (PBLUP). However, single step GBLUP (ssGBLUP), which can estimate the breeding value suitable for the individual by adding genotype, is more accurate than the existing method. Methods: The breeding value and accuracy were estimated with pedigree BLUP and ssGBLUP using pedigree and genotype of 408 Hanwoo cattle from 16 families with the same parent among siblings produced by fertilized egg transplantation. A total of 14,225 Hanwoo cattle with pedigree, genotype and phenotype were used as the reference population. PBLUP obtained estimated breeding value (EBV) using the pedigree of the test and reference populations, and ssGBLUP obtained genomic EBV (GEBV) after constructing and H-matrix by integrating the pedigree and genotype of the test and reference populations. Results: For all traits, the accuracy of GEBV using ssGBLUP is 0.18 to 0.20 higher than the accuracy of EBV obtained with PBLUP. Comparison of EBV and GEBV of individuals without phenotype, since the value of EBV is estimated based on expected values of alleles passed down from common ancestors. It does not take Mendelian sampling into consideration, so the EBV of all individuals within the same family is estimated to be the same value. However, GEBV makes estimating true kinship coefficient based on different genotypes of individuals possible, so GEBV that corresponds to each individual is estimated rather than a uniform GEBV for each individual. Conclusion: Since Hanwoo cows bred through embryo transfer have a high possibility of having the same parent, if ssGBLUP after adding genotype is used, estimating true kinship coefficient corresponding to each individual becomes possible, allowing for more accurate estimation of breeding value.

• Journal of Korean Society of Forest Science
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• v.68 no.1
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• pp.32-36
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• 1985

Megagametophyte tissues of Pinus densiflora were subjected to study the inheritance of acid phosphatase (ACP), alcohol dehydrogenase (ADH) and catalase (CAT) isozymes by starch gel zone-electrophoresis. At least three or four zones were segregated for ACP isozyme. However, as one isozyme of ACP-A zone was separated clearly, only that isozyme was analysed. Five isozyme phenotypes (A1-A5), observed in ACP-A zone, were segregated to a simple Mendelian ratio, suggesting that these are controlled by five codominant alleles existed at ACP-A locus. Two zones of activity were segregated in the gels after staining for ADH, the more anodal zone (ADH-A) of the two was invariant in our materials. Three isozyme phenotypes (B1-B3) were observed in ADH-B zone and these variants showed a 1:1 segregation pattern, suggesting that each variant is controlled by three codominant alleles at ADH-B locus. A total of five isozyme phenotypes, composed of multiple bands, were observed in CAT isozyme. The segregation of these phenotypes in heterozygous trees did not show any significant deviation from a 1:1 segregation. Therefore, the genetic control of CAT isozyme in Pinus densiflora seeds seems to be based on a single locus (CAT-A) with Five codominant alleles ($A_1-A_5$).

• 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.

• 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

• Proceedings of the Korea Contents Association Conference
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• 2009.05a
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• pp.306-311
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• 2009

We initially obtained human diseases-related proteins dataset from the OMIM and the SWISS PROT and then constructed disease-related protein-protein interaction network. The protein network contains 40 hub proteins such as CALM1, ACTB and ABL2. The protein network can be derived the map of the relationship between different disease proteins, denoted disease interaction network. We demonstrate that the associations between diseases are directly correlated to their underlying protein-protein interaction networks. From constructed the disease-protein bipartite network, we derived 38 diseasomal proteins, including APP, ABL1 and STAT1. We previously demonstrated that hub proteins in the network tend to be diseasomal proteins in the disease-related protein sub-networks. However, we found that 18% hubs are only diseasomal proteins in the whole disease network. At this point, we could not elucidate difference in the hub-diseasomal proteins tendency between sub0network and whole network. In spite of we still have unsolved problems, our results elucidate that the discovery of protein interaction networks assigned by diseases will provide insight into the underlying molecular mechanisms and biological processes in complex human disease system.