• 한국발생생물학회지:발생과생식
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• 제15권4호
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• pp.359-364
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• 2011

The seven selected primers OPA-02, OPA-04, OPA-18, OPD-07, OPD-08, OPD-15 and OPD-16 were used to generate unique shared loci to each species and shared loci by the two species. The hierarchical dendrogram indicates three main branches: cluster 1 (RORETZI 01~RORETZI 11) and cluster 2 (HILGENDORF 12~HILGENDORF 22) from two geographic populations of ascidians, Halocynthia roretzi and H. hilgendorfi. The shortest genetic distance displaying significant molecular difference was between individuals' HILGENDORF no. 14~HILGENDORF no. 19 (genetic distance =0.008). Ultimately, individual no. 02 of the RORETZI ascidian was most distantly related to HILGENDORF no. 21 (genetic distance=0.781). These results demonstrate that the H. roretzi population is genetically different from the H. hilgendorfi population. From what has been said above, the potential of PCR analysis to identify diagnostic markers for the identification of two ascidian populations has been demonstrated. Generally speaking, using a variety of decamer primers, this PCR method has been applied to identify specific markers particular to line, species and geographical population, as well as genetic diversity/polymorphism in diverse species of organisms.

• Asian-Australasian Journal of Animal Sciences
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• 제21권6호
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• pp.776-783
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• 2008

In this study, we investigated the genetic diversity and phylogenetic relationship of six duck populations by employing the genetic polymorphisms of 20 microsatellites. The parameters used in this study included number of alleles, average effective numbers of alleles (E) and average rates of heterozygosity of each population. The results showed that all the microsatellite loci were highly polymorphic except that the locus AJ515896 in Muscovy duck was 0. The average PIC (0.762), average h (0.7843) and average E (5.261) of the six duck populations were all high, indicating that the gene polymorphisms and genetic diversity were high. The test of Hardy-Weinberg equilibrium showed that the six populations in this study were all in Hardy-Weinberg disequilibrium. The F-statistic analysis results showed the range of FST was from 0.0205 (AJ515895) to 0.2558 (AJ515896). The mean FST was 0.0936. Phylogenetic study revealed that Peking duck (Z1 and Z4), Shaoxing duck, Cherry Valley duck and Aobaixing duck were clustered in one group, while the Muscovy duck was clustered in one group alone. The phylogenetic relationships among different populations were in accordance with their breeding history and distribution. Our data suggested that the 20 microsatellite loci were effective markers for analysis of genetic relationships among duck populations.

• Fisheries and Aquatic Sciences
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• 제15권1호
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• pp.49-56
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• 2012

Genetic variation in the Asian shore crab Hemigrapsus sanguineus was determined from partial mitochondrial DNA (mtDNA) sequences of the cytochrome b (Cytb) gene. Samples included 143 crabs from six localities along three coastlines in South Korea. A nucleotide sequence analysis revealed 38 variable sites in a 470-bp sequence, which defined 37 haplotypes. The haplotypes were not associated geographically and had a shallow genealogy. Pairwise $F_{ST}$ tests and a two-dimensional scaling analysis revealed no significant genetic differentiation among most of the populations. The low pairwise comparison values, but significant genetic differentiation of a northeastern population from all other populations, might have been influenced by a restriction in gene flow caused by hydrographic conditions such as ocean boundaries. The high haplotype diversity, low nucleotide diversity, and time since H. sanguineus expansion in Korean coastal waters indicate rapid population growth and a recent, sudden expansion in the Late Pleistocene.

• 한국발생생물학회지:발생과생식
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• 제24권3호
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• pp.241-248
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• 2020

This study used a PCR-based genetic analysis platform to create a hierarchical polar dendrogram of Euclidean genetic distances for two salmonid species, Oncorhynchus mykiss (rainbow trout, RT) and Oncorhynchus masou (masu salmon, MS). The species were distantly related to other fish species based on PCR results from using the designed oligonucleotide primer series. Five oligonucleotide primers were used to generate 330 and 234 scorable fragments in the RT and MS populations, respectively. The DNA fragments ranged in size from approximately 50 bp to more than 2,000 bp. The bandsharing (BS) results showed that the RT population had a higher average BS value (0.852) than that for the MS population (0.704). The genetic distance between individuals supported the presence of adjacent affiliation in cluster I (RT 01-RT 11). The observation of a significant genetic distance between the two Oncorhynchus species verifies that this PCR-based technique can be a useful approach for individual- and population-based biological DNA investigations. The results of this type of investigation can be useful for species safekeeping and the maintenance of salmonid populations in the mountain streams of Korea.

• Journal of Species Research
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• 제7권4호
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• pp.354-362
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• 2018

Population genetic assessment is essential for the conservation and management of endangered and rare plants. Neofinetia falcata is endangered epiphyte orchid and protected by law in Korea. In Korea, this species is only found on islands in the South Sea of Korea (including Jeju-do) and the southern coast of the Korean Peninsula. We developed nine microsatellite makers to assess the genetic diversity and population genetic structure of three populations of N. falcata. The genetic diversity at the species level was low, which can be attributed to inbreeding or fragmentation into small, isolated populations. A recent bottleneck was detected in one population, likely due to overcollection. N. falcata exhibited moderated levels of differentiation among populations, with the three populations were divided into two clusters based on genetic structure. The genetic diversity and structure of N. falcata are affected by restricted gene flow by pollen or seeds due to isolation and geographic distance. Strategies for in situ and ex situ conservation of this species are been proposed based on the results of our study.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.19-24
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• 2015

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders. These include stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia and specific language impairment. Among these disorders, stuttering is the most common speech disorder characterized by disruptions in the normal flow of speech. Twin, adoption, and family studies have suggested that genetic factors are involved in susceptibility to stuttering. For several decades, multiple genetic studies including linkage analysis were performed to connect causative gene to stuttering, and several genetic studies have revealed the association of specific gene mutation with stuttering. One notable genetic discovery came from the genetic studies in the consanguineous Pakistani families. These studies suggested that mutations in the lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG and NAPGA) are associated with non-syndromic persistent stuttering. Although these studies have revealed some clues in understanding the genetic causes of stuttering, only a small fraction of patients are affected by these genes. In this study, we summarize recent advances and future challenges in an effort to understand genetic causes underlying stuttering.

• 한국콘텐츠학회논문지
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• 제18권2호
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• pp.47-56
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• 2018

본 연구는 국내 외의 종양유전간호 관련 연구를 분석하여 연구동향을 파악하고자 하였다. 종양유전간호 관련 주제로 학술지에 게재된 논문들의 초록에서 제시한 핵심어들을 중심으로 한 텍스트 네트워크 분석을 실시하였다. 핵심어이자 중심성이 높은 주제어로 Nurse, Cancer, Genetic, Patient, Knowledge, Care, Genetic Test 등이 확인되었으며, 시기별 연구동향을 확인한 결과, 2003년 이후 Information, Care, Knowledge 등의 주제어를 포함한 연구들이 증가하였다. 간호학의 메타 패러다임으로 주제어를 분류한 결과, 건강, 간호, 인간, 환경 순으로 중심성이 높게 나타났다. 건강 영역 중 건강 위험 범주에서 Genetics, Risk, 건강 증진 범주에서 Genetic Test, Prevention 등이 가장 높은 빈도로 나타났다. 본 연구를 통해 종양유전간호 연구의 동향을 파악할 수 있으며, 유전성 암 환자들을 위한 간호 중재에 주축이 되는 간호사의 역할 및 중재프로그램 개발의 방향 설정에 활용될 수 있다는 점에서 의미가 있다.

• 한국패류학회지
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• 제24권1호
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• pp.11-24
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• 2008

GDNA was isolated from the jedo venus clam (Protothaca jedoensis, Lischke) from Boryeong (jedo venus clam from Boryeong JVCB) and Wonsan (jedo venus clam from Wonsan; JVCW) located in the West Sea and the East Sea of Korean Peninsula, respectively and we performed clustering analyses, DNA polymorphisms and the populations genetic variations. In the present study, the seven decamer primer generated the one hundred and eleven major/minor specific bands in JVCB population and ninety four-specific bands in JVCW population. Seven primers generated the unique shared bands to each population of one hundred and seventy-six, on average of 25,1, in JVCB population from Boryeong and three hundred thirty, on average of 47,1, in JVCW population from Wonsan, respectively. The dendrogram obtained by the seven oligonucleotides primers, indicates two genetic clusters. Especially, two Protothaca between the individual WONSAN no. 12 and BORYEONG no. 10 showed the longest genetic distance (0.537) in comparison with other individuals used. Accordingly, RAPD analysis showed that the JVCB was a little more genetically diverse than the JVCW population. This result implies the genetic similarity owing to rearing in the same and/or similar circumstances or inbreeding within the JVCW population. So to speak, JVCB population may have high levels of genomic DNA variability owing to the introduction of the wild individuals from the other sites to sampling sites although it may be the geographically diverse distribution of this species. However, it was confirmed that it did not appear like that really in this study. We feel convinced that RAPD analysis discovered a significant genetic distance between two Protothaca population pairs (P<0.001). The existence of population discrimination and genetic diversity between two Protothaca populations was identified by RAPD analysis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권2호
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• pp.114-123
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• 2017

Purpose: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. Methods: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. Results: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. Conclusion: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.

• Clinical and Experimental Reproductive Medicine
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• 제24권1호
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• pp.51-56
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• 1997

Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be amplified using 15 base oligonucleotide random primer. The greatest advantage of PEP-PCR is the ability to investigate several loci simultaneously and confirm results by analysing multiple aliquots for each locus. This technique led to the development of preimplantation genetic disease diagnosis using blastomere from early embryo, sperm, polar body and oocyte. In this study, we applied PEP-PCR in 20 cases of single amniocyte and 20 cases of single chorionic villus cell for the clinical application of the prenatal and preimplantational genetic diagnosis. We analysed 7 gene loci simultaneously which are 46, 47 exons related to dystrophin gene, two VNTR (variable number tandem repeat) markers using 5'dysIII, 3'CA related to dystrophin gene and DYZ1, DYZ3, DYS14 regions on chromosome Y. In all the tests, 97.5% of PEP-PCR amplifications with single cells were successful. We obtained 38/40 (95%) accuracy in gender determination through chromosome analysis comparison. Therefore, these results have significant implications for a sperm or oocyte analysis and prenatal or preimplantational genetic diagnosis.