• Journal of Chest Surgery
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• v.12 no.3
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• pp.165-169
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• 1979

Neurofibromatosis [Von Recklinghausen`s disease] is a rare Mendelian dominant disease, which shows multiple generalized symptoms and signs at various sites [Ex Skin, Bone, Nerve, Endocrine, Mediastinum rarely Lung, etc.]. We experienced one case of neurofibromatosis which has typical skin lesions [cafe-au-lait, multiple nodules, axillary freckling] with neurofibrosarcoma [malignant change from mediastinal lesion]. Patient was admitted our department because of recently developed severe dyspnea which was probably due to main tracheal compression by mediastinal neurofibrosarcoma. After successful removal of mediastinal mass dyspnea disappeared completely. Patient`s postoperative course was uneventful, and the patient was discharged 14 days after operation.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.51 no.4
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• pp.348-355
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• 2006

Phenotypes of panicle, hull and seed of mutant rice (Oryza sativa L.) were characterized. Panicle mutants were classified in 4 groups with their internode length of main rachis, primary rachis, secondary rachis and pedicel. Hull and seed mutants were grouped into 12 based on their mutant characters in shape, size and color of seeds. These natural and spontaneous mutant collections showed distinct phenotypes to wild type rice. This might be useful for the identification of the functions of genetic factors in the Mendelian inheritance.

• Journal of Aquaculture
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• v.10 no.4
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• pp.395-402
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• 1997

The study has been conducted in order to understand the inheritance of body color in the wild type zebrafish (zebra danio), Danio rerio, and its golden mutant (golden danio). The body color was also studied to determine the effect of golden coloration on the survival rate of zebrafish eggs and larvae up to 15 days after fertilization. Reciprocal monohybrid crosses between the wild and the golden type of zebrafish indicated that golden coloration was controlled by a single gene which had two alleles. Transmission of these alleles from parents to their progenies followed the principles of dominance and segregation based on Mendelian inheritance. Similar results from the reciprocal crosses implied that a locus for golden coloration was located on an autosomal chromosome. On the other hand, average survival rates from four different types of mating between, and within, zebra and golden danio suggested that golden coloration seemed to be associated with the survival rate of zebrafish, especially in its early embryonic stage. This indicated that homozygous recessive golden mutation was likely to weaken the golden danio's chance of survival.

• 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.

• 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.

• Molecules and Cells
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• v.46 no.1
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• pp.10-20
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• 2023

Antisense oligonucleotide (ASO) technology has become an attractive therapeutic modality for various diseases, including Mendelian disorders. ASOs can modulate the expression of a target gene by promoting mRNA degradation or changing pre-mRNA splicing, nonsense-mediated mRNA decay, or translation. Advances in medicinal chemistry and a deeper understanding of post-transcriptional mechanisms have led to the approval of several ASO drugs for diseases that had long lacked therapeutic options. For instance, an ASO drug called nusinersen became the first approved drug for spinal muscular atrophy, improving survival and the overall disease course. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF). Although Trikafta and other CFTR-modulation therapies benefit most CF patients, there is a significant unmet therapeutic need for a subset of CF patients. In this review, we introduce ASO therapies and their mechanisms of action, describe the opportunities and challenges for ASO therapeutics for CF, and discuss the current state and prospects of ASO therapies for CF.

• Journal of Plant Biotechnology
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• v.1 no.2
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• pp.109-115
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• 1999

A linkage map of Capsicum annuum L. was constructed by random amplified polymorphic DNA (RAPD) markers followed in a backcross population of an intraspecific cross between cultivars HDA210 and Yatsufusa. A total of 420 random primers were tested and 311 polymorphic bands were generated by 158 random primers. Among them, 86 Yatsufusa specific bands generated by 52 primers were examined for mapping. Most bands except three segregated in Mendelian fashion fitting the expected 1:1 ratio. The total length of the map was 533 cM distributed in 15 linkage groups. The map distance between adjacent markers ranged 0 to 32.8 cM, with an average distance of 9.1 cM (63 markers). Some markers were clustered and this may be due to the amplification of a repetitive sequence by the RAPDs. Primer pairs for a sequence characterized amplified region (SCAR) were developed and the segregation scores by the SCAR primers were in accordance with the RAPD data. Two QTL markers for number of axillary shoots and for early flowering were developed. One QTL for early flowering located in the linkage group 3 and explained 61 "io of the phenotypic variation. The other QTL for the number of axillary shoots located in the linkage group 4 explained 55 % of the phenotypic variation.tion.

• Journal of Plant Biotechnology
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• v.2 no.1
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• pp.35-41
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• 2000

Transgenic cabbage (Brassica oleracea ssp. capitata) plants resistant to the commercial herbicide Bast $a^{R}$ were obtained by Agrobacterium tumefaciens - mediated transformation. Hypocotyl segments of in vitro grown plants were infected with Agrobacterium tumefaciens LBA 4404 harboring plasmid pMOG6-Bar which contains hpt and bar genes. Explants were cultured on callus induction medium (MS basal medium + 1 mg/L NAA + 2 mg/L BA + 2 mg/L AgN $O_3$+ 100 mg/L carbenicillin + 250 mg/L cefotaxime) supplemented with 15 mg/L hygromycin. Hygromycin resistant calluses were transferred to shoot regeneration medium (MS basal medium + 0.1 mg/L NAA + 2 mg/L BA + 3% sucrose + 2 mg/L AgN $O_3$+ 15 mg/L hygromycin + 250 mg/L cefotaxime + 100 mg/L carbenicillin). In order to induce roots, elongated shoots were placed on the MS medium without plant growth regulators and hygromycin. Southern blot analysis of several putative transgenic plants indicated that one to five intact copies of Apt and bar genes were incorporated into the genome. Expression of bar gene was confirmed by Northern blot analysis and by herbicide resistant phenotype. Seed progeny from self-pollinated transformants expressed the herbicide resistance and showed Mendelian segregation of the introduced gene.e.

• 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.

• The Plant Pathology Journal
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• v.31 no.3
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• pp.252-258
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• 2015

This is the first study reporting the evaluation of transgenic lines of tomato harboring rice chitinase (RCG3) gene for resistance to two important fungal pathogens Fusarium oxysporum f. sp. lycopersici (Fol) causing fusarium wilt and Alternaria solani causing early blight (EB). In this study, three transgenic lines TL1, TL2 and TL3 of tomato Solanum lycopersicum Mill. cv. Riogrande genetically engineered with rice chitinase (RCG 3) gene and their R1 progeny was tested for resistance to Fol by root dip method and A. solani by detached leaf assay. All the R0 transgenic lines were highly resistant to these fungal pathogens compared to nontransgenic control plants. The pattern of segregation of three independent transformant for Fol and A. solani was also studied. Mendelian segregation was observed in transgenic lines 2 and 3 while it was not observed in transgenic line 1. It was concluded that introduction of chitinase gene in susceptible cultivar of tomato not only enhanced the resistance but was stably inherited in transgenic lines 2 and 3.