• Asian-Australasian Journal of Animal Sciences
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• v.23 no.12
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• pp.1552-1556
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• 2010

The aim of this study was to evaluate, through the use of microsatellite markers, the current genetic diversity and the relationships of 375 individuals from 8 local sheep breeds reared in typical breeding farms in the northwest of China, and moreover, to offer a contribution towards genetic conservation decisions for the studied breeds. The expected heterozygosities and allelic richness for the 8 breeds varied from 0.474 to 0.623 and from 3.8 to 5.4, respectively. All the populations showed a significant deficit in heterozygosity and a relatively low level of genetic diversity. Furthermore, the high positive FIS value (ranging from 0.255 to 0.556) indicated inbreeding to be one of the main causes for high genetic homogeneity and lack of heterozygosity in all breeds. The clustering analysis performed with the DISPAN package showed that Aletai, Kazak, Bashibai and Bayinbuluke were grouped together, and Hetian, Qira black and Duolang were grouped together, which indicated that the relationship among breeds displayed some degree of consistency with their geographical distribution, production and origin. These findings indicate that improved conservation measures must be undertaken to avoid further losses of genetic diversity and minimize inbreeding represented by these breeds.

• Childhood Kidney Diseases
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• v.28 no.1
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• pp.8-15
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• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.9
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• pp.1368-1372
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• 2014

Several studies arduously reported that gayal (Bos frontalis) is an independent bovine species. The population size is shrinking across its distribution. In Bangladesh, it is the only wild relative of domestic cattle and also a less cared animal. Their body size is much bigger than Bangladeshi native cattle and has prominent beef type characters along with the ability to adjust in any adverse environmental conditions. Human interactions and manipulation of biodiversity is affecting the habitats of gayals in recent decades. Besides, the only artificial reproduction center for gayals, Bangladesh Livestock Research Institute (BLRI), has few animals and could not carry out its long term conservation scheme due to a lack of an objective based scientific mission as well as financial support. This indicates that the current population is much more susceptible to stochastic events which might be natural catastrophes, environmental changes or mutations. Further reduction of the population size will sharply reduce genetic diversity. In our recent investigation with 80K indicine single nucleotide polymorphism chip, the $F_{IS}$ (within-population inbreeding) value was reported as $0.061{\pm}0.229$ and the observed ($0.153{\pm}0.139$) and expected ($0.148{\pm}0.143$) heterozygosities indicated a highly inbred and less diverse gayal population in Bangladesh. Prompt action is needed to tape the genetic information of this semi-domesticated bovine species with considerable sample size and try to investigate its potentials together with native zebu cattle for understanding the large phenotypic variations, improvement and conservation of this valuable creature.

• Laboraroty Animal Research
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• v.34 no.4
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• pp.311-316
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• 2018

Laboratory inbred mice are used widely and commonly in biomedical research, but inbred mice do not have a big enough gene pool for the research. In this study, genetic and morphometric analyses were performed to obtain data on the characteristics of a newly developing inbred strain (KWM/Hym) captured from Chuncheon, Korea. All of five Korean wild male mice have the zinc-finger Y (ZfY) gene. Also, all of 19 Korean wild mice used in this analysis have the AKV-type murine leukemia virus gene, indicating that Korean wild mice might be Mus musculus musculus. To identify the genetic polymorphism in KWM/Hym, SNP analysis was performed. In a comparison with 28 SNP markers, there was a considerable difference between KWM/Hym and several inbred strains. The homogeneity between KWM/Hym and the inbred strains was as follows: C57BL/6J (39.3%), BALB/c AJic (42.9%), and DBA/2J (50%). KWM/Hym is most similar to the PWK/PhJ inbred strain (96.4%) derived from wild mice (Czech Republic). To identify the morphometric characteristics of KWM/Hym, the external morphology was measured. The tail ratio of male and female was $79.60{\pm}3.09$ and $73.55{\pm}6.14%$, respectively. KWM/Hym has short and agouticolored hairs and its belly is white with golden hair. Taking these results together, KWM/Hym, a newly developing inbred mouse originated from wild mouse, might be use as new genetic resources to overcome the limitations of the current laboratory mice.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2009.10a
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• pp.44-44
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• 2009

• Korean Journal of Veterinary Research
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• v.53 no.4
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• pp.239-243
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• 2013

Tigers are one of the most endangered species over the world and protected internationally or locally. However, they are still traded illegally for the Traditional East Asia Medicine or souvenirs / mementos as well as fake products. In the present study, to identify the species of the specimen known as the tiger's genitalia that was sold for mementos in China, two approaches of genetic tools and morphological comparisons were applied. On the basis of the entire sequences of mitochondrial cytochrome b gene (1,140 bp), the result of nucleotide comparisons showed that the specimen examined here is matched with banteng, Bos javanicus (Identities = 1,138/1,140; 99%). In addition, the examination of external morphological characters revealed that the genitalia of the specimen is much more similar to the one of cows, not to tigers. The outcomes highlighted that there are still some fake products of tigers traded in market and molecular genetic tools could help identifying species of wildlife products.

• Korean Journal of Environment and Ecology
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• v.35 no.4
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• pp.336-346
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• 2021

The enforcement of the Nagoya Protocol, which regulates the acquisition and use of genetic sources, an essential material for biotechnology R&D, has imposed a burden for additional documentation works to researchers. In the past, countries regarded genetic resources as a common human heritage and thus allowed researchers to use them freely. However, they can no longer afford the luxury of such freedom now since many countries are introducing new laws and regulations on the acquisition and use of the resources as the Nagoya Protocol recognizes the exclusive ownership of genetic resources. Therefore, Korea, which is highly dependent on foreign genetic resources, needs a more systematic response. This paper aims to review the key contents of the Nagoya Protocol to raise awareness among domestic and foreign genetic resource users, including researchers of environment and ecology and present the overall structure, and flow of acquisition, access, and benefit sharing (ABS) for the use of foreign genetic resources to help them respond appropriately to the new landscape. The researchers' efforts and support at the national level are necessary at the same time to appropriately respond to the Nagoya Protocol. First, the researchers must understand the overall framework and the specific response in each stage under the Nagoya Protocol scheme. It is necessary to respond to the ABS procedure of the resource provider country from accessing genetic resources to sharing benefits resulting from it. In that regard, the Nagoya Protocol has imposed more restrictions on research activities and raised the burden outside of research. The current trend of recognizing the country's sovereign rights over genetic resources is likely to continue and widespread worldwide as resource-rich countries are expected to continue protecting their resources. Therefore, our study will help environmental ecology researchers understand ABS and conduct research under the Nagoya Protocol and legal obligations of resource provider countries step by step, from access to benefit sharing.

• The Korean Journal of Mycology
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• v.30 no.2
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• pp.142-146
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• 2002

In order to develop a new traditional liquor by using Paecilomyces japonica, alcohol fermentation condition was investigated. Ethanol was produced maximally when 1% P. japoniea and 10% koji were added into mash and fermented by Saccharomyces cerevisiae at $25^{\circ}C$ for 15 days. Sensory evaluation and physiological functionalities of P. japonica traditional liquors made by different addition ($0.1{\sim}2.0%$) of the fungus were also determined and compared. As 0.1% P. japonica was added to mash, the liquor was best acceptable, and its fibrinolytic activity and nitrite scavenging activity were 11.2U and 19.8%, respectively.

• Journal of Microbiology and Biotechnology
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• v.16 no.12
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• pp.1904-1911
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• 2006

The cell-free extracts of 250 yeasts were screened for their in vitro anti-angiogenic activity, to develop a new cancer metastasis inhibitor. Saccharomyces cerevisiae K-7 was selected as the producer of the anti-angiogenic agent, because it had the highest anti-angiogenic activity. The anti-angiogenic agent was produced maximally from hydrolysates of Saccharomyces cerevisiae K-7, when the yeast was cultured in yeast extract-peptone-dextrose medium at 30$^{\circ}C$ for 24 h, and cell-free extracts were than digested with pepsin for 4 h at 37$^{\circ}C$. The anti-angiogenic agent was further purified by ultrafiltration, Sephadex G-25 gel permeation chromatography and reverse-phase HPLC, and the anti-angiogenic activity of the final purified preparation was 72.7% at 10 $\mu$M/egg. The purified anti-angiogenic agent was found to originate from the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) molecule of Saccharomyces cerevisiae K-7, and its peptide sequence was Val-Ser-Trp-Tyr-Asp-Asn-Glu-Tyr-Gly-Tyr-Ser-Thr-Arg-Val-Val-Asp. In the MTT assay, the shape of the HT-l 080 cell was clearly changed to a circular type at 0.2 mM purified anti-angiogenic agent. This result indicated that the growth of the HT-I080 cell was significantly inhibited at 0.2 mM of the purified anti-angiogenic agent. The MMP activity of the treated HT-l080 cells was not affected, evidenced by the gelatin zymography, indicating that the anti-angiogenic mechanism of the purified anti-angiogenic agent is not mediated through MMP activity.

• Journal of Microbiology and Biotechnology
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• v.21 no.4
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• pp.374-378
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• 2011

To find alternative genetic resources for D-serine dehydratase (E.C. 4.3.1.18, dsdA) mediating the deamination of D-serine into pyruvate, metagenomic libraries were screened. The chromosomal dsdA gene of a wild-type Escherichia coli W3110 strain was disrupted by inserting the tetracycline resistance gene (tet), using double-crossover, for use as a screening host. The W3110 dsdA::tet strain was not able to grow in a medium containing D-serine as a sole carbon source, whereas wild-type W3110 and the complement W3110 dsdA::tet strain containing a dsdA-expression plasmid were able to grow. After introducing metagenome libraries into the screening host, a strain containing a 40-kb DNA fragment obtained from the metagenomic souce derived from a compost was selected based on its capability to grow on the agar plate containing D-serine as a sole carbon source. For identification of the genetic resource responsible for the D-serine degrading capability, transposon-${\mu}$ was randomly inserted into the 40-kb metagenome. Two strains that had lost their D-serine degrading ability were negatively selected, and the two 6-kb contigs responsible for the D-serine degrading capability were sequenced and deposited (GenBank code: HQ829474.1 and HQ829475.1). Therefore, new alternative genetic resources for D-serine dehydratase was found from the metagenomic resource, and the corresponding ORFs are discussed.