• Plant Resources
• /
• 제5권1호
• /
• pp.86-94
• /
• 2002

This study characterized the genetic variations of 13 populations of Asplenium antiquum and its relative species using randomly amplified polymorphic DNA (RAPD) markers. A total 88 scorable RAPD bands were generated by the 12 random oligo primers and were analyzed by Nei and Li's genetic distance. High genetic variability was detected between A. antiquum and A. nidus, with the range from 0.568 to 0.682. And slightly low genetic variations showed within the populations of same species. Seven populations of A. antiquum showed slight differences (0.000-0.216), and five populations of A. nidus showed similar low genetic variations (0.114 to 0.171). Two individuals from Sup-seom Island which are growing in might be the regenerated one from abroad. A. antiquum were clustered as two groups (Group I, Group II) by UPGMA phenogram. And five populations of A. nidus were clustered as two groups correlated with geographical distribution. The RAPD data was very useful to define the genetic variations and to discuss the phylogenetic relationships among A. antiquum and the related species..

• BMB Reports
• /
• 제37권1호
• /
• pp.11-27
• /
• 2004

The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed.

• Journal of Genetic Medicine
• /
• 제12권1호
• /
• pp.12-18
• /
• 2015

Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as next-generation sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.

• Biomolecules & Therapeutics
• /
• 제26권2호
• /
• pp.101-108
• /
• 2018

G protein-coupled receptors (GPCRs) are the largest superfamily of transmembrane receptors and have vital signaling functions in various organs. Because of their critical roles in physiology and pathology, GPCRs are the most commonly used therapeutic target. It has been suggested that GPCRs undergo massive genetic variations such as genetic polymorphisms and DNA insertions or deletions. Among these genetic variations, non-synonymous natural variations change the amino acid sequence and could thus alter GPCR functions such as expression, localization, signaling, and ligand binding, which may be involved in disease development and altered responses to GPCR-targeting drugs. Despite the clinical importance of GPCRs, studies on the genotype-phenotype relationship of GPCR natural variants have been limited to a few GPCRs such as b-adrenergic receptors and opioid receptors. Comprehensive understanding of non-synonymous natural variations within GPCRs would help to predict the unknown genotype-phenotype relationship and yet-to-be-discovered natural variants. Here, we analyzed the non-synonymous natural variants of all non-olfactory GPCRs available from a public database, UniProt. The results suggest that non-synonymous natural variations occur extensively within the GPCR superfamily especially in the N-terminus and transmembrane domains. Within the transmembrane domains, natural variations observed more frequently in the conserved residues, which leads to disruption of the receptor function. Our analysis also suggests that only few non-synonymous natural variations have been studied in efforts to link the variations with functional consequences.

• 대한의생명과학회지
• /
• 제24권3호
• /
• pp.221-229
• /
• 2018

Trichophyton rubrum is one of the well-known pathogenic fungi and causes dermatophytosis and cutaneous mycosis in human world widely. However, there are not an available sequence type (ST) classification methods and previous studies for T. rubrum until now. Therefore, currently, molecular biological tools using their DNA sequences are used for genotype identification and classification. In the present study, in order to characterize the genetic diversity and the phylogenetic relation of T. rubrum clinical isolates, five different housekeeping genes, such as actin (ACT), calmodulin (CAL), RNA polymerase II (RPB2), superoxide dismutase 2 (SOD2), and ${\beta}$-tubulin (BT2) were analyzed using by multilocus sequence typing (MLST). Also, DNA sequence analysis was performed to examine the differences between the sequences of Trichophyton strains and the identified genetic variations sequence. As a result, most of the sequences were shown to have highly matched rates in their housekeeping genes. However, genetic variations were found on three different positions of ${\beta}$-tubulin gene and were shown to have changed from $C{\rightarrow}G$ (1766), $G{\rightarrow}T$ (1876), and $C{\rightarrow}A$ (1886). To confirm the association with T. rubrum inheritance, a phylogenetic tree analysis was performed. It was classified as four clusters, but there was little significant correlation. Even so, MLST analysis is believed to be helpful for determining the genetic variations of T. rubrum in cases where there is more large-scale data accumulation. In conclusion, the present study demonstrated the first MLST analysis of T. rubrum in Korea and explored the possibility that MLST could be a useful tool for studying the epidemiology and evolution of T. rubrum through further studies.

• 한국자원식물학회지
• /
• 제22권3호
• /
• pp.242-247
• /
• 2009

Randomly Amplified Polymorphic DNA (RAPD) was performed to define the genetic variation and relationships of Artemisia capillaris. Fifteen populations by the distributions and habitat were collected to conduct RAPD analysis. RAPD markers were observed mainly between 300bp and 1600bp. Total 72 scorable markers from 7 primers were applied to generate the genetic matrix, and 69 bands were polymorphic and only 3 bands were monomorphic. The genetic dissimilarity matrix by Nei's genetic distance (1972) and UPGMA phenogram were produced from the data matrix. Populations of Artemisia capillaris were clustered with high genetic affinities and cluster patterns were correlated with distributional patterns. Two big groups were clustered as southern area group and middle area group. The closest OTUs were GW2 and GG1 in middle area group, and GB1 from southern area group was clustered with OTUs in middle area group. RAPD data was useful to define the genetic variations and relationships of A. capillaris.

• Weed & Turfgrass Science
• /
• 제5권3호
• /
• pp.144-154
• /
• 2016

Goosegrass [Eleusine indica (L.) Gaertn] has been a nuisance to growers in Malaysia due to its increased resistance to commercial herbicides, rapid growth and dissemination, and interference with agricultural practices. In the course of developing an apt integrated management to control goosegrass, more information of this weed is needed. The aim of this study was to look into variations among the goosegrass ecotypes sampled throughout Malaysia from the aspects of genotype and phenotype. Sequence-related amplified polymorphism (SRAP) markers were employed in investigating the genetic diversity and relationships among the 18 goosegrass ecotypes. Consequently, 5 primer combinations amplified 13 fragments with the polymorphism rate of 69.23%. At 74% similarity, the ecotypes were clustered into 6 groups. Phenotypic variability of the goosegrass ecotypes was assessed by observing their morphology, growth and seed traits. Goosegrass ecotypes were sorted into 3 major groups at the genetic distance (DIST) of 0.37. Concurrences of the evaluated genetic distance, ecotypes with the closest and most distant relationships were assembled together in Group I which showed high variation even among ecotypes in the same group. Results obtained thus implied high molecular and morphological variations of the goosegrass ecotypes in Malaysia.

• Journal of Genetic Medicine
• /
• 제20권2호
• /
• pp.46-51
• /
• 2023

Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

• Journal of Genetic Medicine
• /
• 제12권1호
• /
• pp.6-11
• /
• 2015

Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of severe ID are thought to have a genetic cause. The advent of technologies such as array comparative genomic hybridization, single nucleotide polymorphism genotyping arrays, and massively parallel sequencing has shown that de novo copy number variations and single nucleotide variations affecting coding regions are major causes of severe ID. This article reviews the genetic causes of ID along with diagnostic approaches for this disability.

• 한국균학회지
• /
• 제28권1호
• /
• pp.32-37
• /
• 2000

본 연구는 국내 주요 송이 산지에서 생산되는 송이{Tricholoma matsutake(S. Ito et Imai) Sing}의 개체간, 그리고 지역간 유전적 다양성을 구명하기 위하여 실시하였다. 경상북도의 봉화, 울진, 고령, 청도의 4개 지역, 경상남도의 창녕, 하동, 함양의 3개 지역, 강원도의 양양, 인제의 2개 지역, 충청북도의 괴산, 전라북도의 남원을 포함하여 총 11개의 송이 산지를 대상으로 1994년부터 1997년까지 산지별로 $3{\sim}8$개의 균환에서, 그리고 각 균환마다 2개의 자실체를 채집하여 6개의 primer를 이용하여 Inter Simple Sequence Repeat Polymerase Chain Reaction(I-SSR PCR)법을 이용하여 자실체의 유전적 특성을 조사하였다. 그 결과 총 131개의 DNA band가 재현성 있게 나타났다. 또한 산지간의 유연관계를 살펴보기 위하여 Nei의 genetic distance를 이용하여 UPGMA tree를 작성하였다. I-SSR PCR법을 이용하여 DNA를 분석한 결과, 산지간의 유전적 변이는 12.9%에 불과한 반면 산지 내 개체간 변이가 87.1%로 나타났다. 유집 분석 결과는 11개 송이 산지를 제 I 그룹(양양, 함양, 인제, 하동, 울진), 제 II 그룹(남원, 창녕, 청도), 제 III 그룹(고령), 제 IV 그룹(봉화, 괴산)의 4개 그룹으로 분류하였다. 송이의 유전적 다양성, 집단간의 유전적 차이를 나타내는 수치인 Fst 값이 0.13이므로 집단간의 유전적 변이를 어느 정도 나타낸다고 결론짓는다.