• Asian Pacific Journal of Cancer Prevention
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• 제15권7호
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• pp.3331-3333
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• 2014

Background: The results of previous researches that analyzed the association between genetic polymorphisms of transcription factor-7-like 2 (TCF7L2, rs7903146) and polycystic ovary syndrome (PCOS) were conflicting. Current systematic analysis was conducted to re-explore this association using updated materials. Materials and Methods: The PubMed database was used for data collection and the final search was conducted on January 3, 2014. For TCF7L2 rs7903146, a non-signficiant slight increase in risk of PCOS development was observed under three genetic models (dominant model: OR=1.06, 95%CI: 0.93-1.21, p>0.05; recessive model: OR=1.12, 95%CI: 0.87-1.43, p> 0.05; homozygous model: OR=1.14, 95%CI: 0.87-1.47, p>0.05). In the subgroup analyses in Asian group, allele susceptibility of PCOS was calculated (allele model: OR=1.00, 95%CI: 0.74-1.35, p>0.05; dominant model: OR=0.98, 95%CI: 0.71-1.35, p>0.05; recessive model: OR=1.79, 95%CI: 0.33-9.84, p>0.05; homozygous model: OR=1.78, 95%CI: 0.32-9.80, p>0.05), the differences were again not statistically significant. Conclusions: The findings of this systemic analysis suggest that the polymorphism of TCF7L2 rs7903146 may not be associated with the susceptibility to PCOS.

• 한국약용작물학회지
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• 제9권3호
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• pp.205-210
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• 2001

50여개의 primer를 사용하여 잔대 Adenophora triphylla와 층층잔대 A. radiatifolia Nakai, 그리고 더덕 Codonopsis laceolata Trautv의 지역간, 속간의 차이점과 감별여부를 RAPD법으로 시행한 결과, 잔대와 층층잔대의 차이점은 거의 없었으며, 더덕의 지역차이는 0.889의 유전적거리를 나타내었다. 두 종(種)을 구별할 수 있는 특이 band로는 primer 357, 361, 363, 393 이었으며, 건조약재와 비교하였을 때 재현성이 확인되었고, 또한 잔대와 더덕의 건조약재를 각각 혼합시켰을 때 이를 구별할 수 있는 major band가 뚜렷이 나타나 혼용되어있는 건조약재에서의 감별이 가능함을 알 수 있었다..

• 한국산림과학회지
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• 제106권4호
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• pp.417-423
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• 2017

구상나무(Abies koreana)의 유전다양성 복원 전략 수립을 위해 지리산의 반야봉, 벽소령, 천왕봉 아집단들에 대한 유전다양성과 아집단 간 유전분화율을 추정하였다. 아집단 평균 유전다양성은 대립유전자수(A)가 7.8개, 평균 유효대립유전자수($A_e$)가 4.9개, 이형접합도 관찰치($H_o$)가 0.578, 이형접합도 기대치($H_e$)가 0.672이었다. 3개 아집단들의 평균 유전다양성($H_e=0.672$)은 지리산 집단 수준의 유전다양성($H_e=0.778$)과 구상나무 종 수준의 유전다양성($H_e=0.759$)보다 낮았으나, 전나무 속 타 수종들과 비교하면 높은 것으로 나타났다. 아집단 간 유전분화율은 F-통계분석($F_{ST}$)에서 0.014였고, AMOVA 분석(${\Phi}_{ST}$)에서 0.004로 나타났다. 베이지안 군집분석에서 지리산 내 아집단 간 유전분화가 거의 없는 것으로 나타났다. 그러므로 3개 지역으로부터 모수들을 충분히 선정하여 종자를 채취한다면, 유전적으로 다양한 복원재료를 확보할 수 있을 것으로 생각된다.

• Journal of Genetic Medicine
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• 제6권1호
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• pp.38-55
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• 2009

목 적: 국내실정에 맞는 전문 유전상담사 교육프로그램과 교육기관의 인정 및 유전상담사의 전문 자격 인증 제도를 설립에 근거자료로 활용하고자 하였다. 대상 및 방법: 국외의 유전상담사 교육 프로그램 인정과 유전상담사 인증 제도를 파악하고, 관련 업무 종사자에게 설문조사를 실시하였으며, 전문가 회의를 통해 도출된 의견을 분석하였다. 결 과: 인정받은 교육기관 수료자만을 인증시험요건으로 규정한 미국과는 달리, 일본은 관련 분야의 임상경력을 갖춘자에게도 한시적으로 인증시험 자격을 부여하였다. 일본은 필기와 면접시험으로, 미국은 필기시험으로 인증 시험이 진행되고 있으며, 주기는 미국 2년, 일본 1년, 인증기간은 미국 10년, 일본 5년이었다. 설문조사에서는 '대한의학유전학회에서 위원회를 구성하여 교육기관 인정과 전문 유전상담사 인증을 담당하며, 관련학회의 의견수렴과 자문을 얻는다'에 대다수가 찬성하였다. 지원자의 전공은 제한할 필요가 없으며, 인증시험은 필기와 실기로 이루어져야하고 주기는 2년, 인증기간은 5년이 적당하다는 응답이 가장 많았다. 결 론: 유전상담 교육기관 및 유전상담사 인증 제도는 대한 의학유전학회에서 주관하며, 미국과 일본의 프로그램을 참고하여 국내실정에 맞게 도입한다. 대한의학유전학회에서는 위원회를 구성하여 관련 학회 등의 의견수렴과 자문을 얻어 교육프로그램 개발과 인증 제도를 구체화 할 것을 촉구하는 동시에 정부에서도 유전상담의 급여화와 필요한 제도적인 지원이 있어야만 국내의 유전의료의 발전에 필요한 인프라 구축의 내실을 다질 수 있게 될 것이다.

• Journal of Forest and Environmental Science
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• 제31권3호
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• pp.214-224
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• 2015

The economy of India and so also of many Asian countries depends on bamboos and their uses are not only in domestic items but also in rural housing and raw materials to several industries and germplasm characterization is an important link between the conservation and utilization of plant genetic resources. Classical taxonomic studies of the bamboos are based on floral morphology and growth habit, which can cause problems in identification due to erratic flowering coupled with different biotic agencies and environmental factors. Identification and genetic relationships among accessions of Thamnocalamus falconeri were investigated using morphology and random amplified polymorphic DNAs (RAPD) technique. Analysis started by using 51 vegetative characters and forty two 10-mer primers that allowed us to distinguish different genotypes hailing from different eco- zones of Garhwal Himalayas (India). The selected primers (12) were used for identification and for establishing a profiling system to estimate genetic diversity. A total of 79.33% polymorphism was estimated by using 12 selected primers. The genetic similar analysis was conducted based on binary digits i.e. presence (1) or absence (0) of bands, which revealed a wide range of variability among the species whereas genetic relatedness was quite high based on vegetative characters. Cluster analysis clearly showed two major clusters for both of the markers viz. morphology and RAPD belonging to 10 accessions of T. falconeri. Two major clusters were further divided into minor clusters. Cluster based on RAPD marker showed grouping of accessions of closed locality whereas analogy was reported for vegetative traits. The RAPD technique has the potential for use in species identification and genetic relationships studies of bamboo for breeding program.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6005-6010
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• 2012

Background: Nasopharyngeal carcinoma (NPC) is endemic in Southern Chinese and Southeast Asian populations. Geographical and ethnic clustering of the cancer is due to genetic, environmental, and lifestyle risk factors. This case-control study aimed to identify or confirm both genetic and non-genetic risk factors for NPC in one of the endemic countries, Malaysia. Materials and Methods: A panel of 768 single-nucleotide polymorphisms (SNPs) previously associated with various cancers and known non-genetic risk factors for NPC were selected and analyzed for their associations with NPC in a case-control study. Results: Statistical analysis identified 40 SNPs associated with NPC risk in our population, including 5 documented previously by genome-wide association studies (GWAS) and other case-control studies; the associations of the remaining 35 SNPs with NPC were novel. In addition, consistent with previous studies, exposure to occupational hazards, overconsumption of salt-cured foods, red meat, as well as low intake of fruits and vegetables were also associated with NPC risk. Conclusions: In short, this study confirmed and/or identified genetic, environmental and dietary risk factors associated with NPC susceptibility in a Southeast Asian population.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.5957-5960
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• 2013

Background: Gliomas are the most common type of primary brain tumor in adults, and the X-ray repair complementing group 1 gene (XRCC1) is an important candidate gene influencing its risk. The objective of this study was to detect the influence of XRCC1 genetic polymorphisms on glioma risk. Materials and Methods: A total of 629 glioma patients and 641 cancer-free subjects were enrolled in this case-control study. The genotypes of the c.1471G>A genetic polymorphism were determined by created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods. The influence of the XRCC1 genetic polymorphism on glioma risk was evaluated by association analysis. Results: Our data indicated that the alleles/genotype of this genetic variant was statistically associated with glioma risk. The AA genotype was statistically associated with the increased risk of glioma compared to the GG wild genotype (odds ratios (OR) = 1.89, 95% CI 1.25-2.87, P = 0.003). The allele-A may contribute to increased the susceptibility to glioma (OR = 1.23, 95% CI 1.04-1.46, P = 0.017). Conclusions: These preliminary findings indicate that the c.1471G>A genetic polymorphism of XRCC1 has the potential to influence glioma susceptibility, and might be used as molecular marker for assessing glioma risk.

• 한국자원식물학회지
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• 제28권6호
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• pp.697-703
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• 2015

Twenty apple germplasm accessions from the Korean Genebank were successfully cryopreserved using two-step freezing to back up genetic resources maintained by field collections. This study examined the morphological and genetic stability of cryopreserved dormant apple buds that were stored in liquid nitrogen, and then rewarmed and regrown. Whole plants were regenerated directly from dormant buds through budding without an intermediary callus phase. The cryopreserved buds produced high levels of shoot formation (76.2-100%), similar to those of noncryopreserved buds (91.3-100%), with no observed differences between cryopreserved and noncryopreserved materials. Three of the twenty cryopreserved apple germplasm accessions were used to assess morphological and genetic stability. No differences in morphological characteristics including shoot length, leaf shape, leaf width/length ratio, and root length were observed between controls (fresh control and noncryopreserved) and cryopreserved plantlets. The genetic stability of regenerants (before and after cryopreservation) was investigated using inter simple sequence repeat (ISSR) markers. The ISSR markers produced 253 bands using four primers, ISSR 810, SSR 835, ISSR 864, and ISSR 899. These markers showed monomorphic banding patterns and revealed no polymorphism between the mother plant and regenerants before and after cryopreservation, suggesting that cryopreservation using two-step freezing does not affect the genetic stability of apple germplasm. These results show that two-step freezing cryopreservation is a practical method for long-term storage of apple germplasms.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.85-93
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• 2022

Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in Korean patients with CdLS are still largely unknown. Hence, this study aimed to clarify the clinical characteristics and genetic background of Korean patients with CdLS. Materials and Methods: The medical records of 15 unrelated patients (3 males and 12 females) genetically confirmed to have CdLS were retrospectively reviewed. All individuals were diagnosed with CdLS using target gene analysis, whole-exome sequencing, and/or chromosomal microarray analysis. The clinical score (CS) was calculated to assess disease severity. Results: The median age at diagnosis was 1.7 (range, 0.0-11.8) years, and median follow-up duration was 3.8 (range, 0.4-11.7) years. Eight (53.3%) patients showed classic phenotypes of CdLS, two (13.3%) showed non-classic phenotypes, and five (33.3%) had other phenotypes sharing limited signs of CdLS. Fifteen causative variants were identified: NIPBL in five (33.3%, including 3 males), SMC1A in three (20.0%), SMC3 in three (20.0%), and HDAC8 in four (26.7%) patients. The CS was significantly higher in the NIPBL group than in the non-NIPBL group (14.2±1.3 vs. 8.7±2.9, P<0.001). Conclusion: We identified the clinical and genetic heterogeneity of CdLS in Korean patients. Patients with variants of NIPBL had a more distinctive phenotype than those carrying variants of other cohesin complex genes (SMC1A, SMC3, and HDAC8). However, further studies are warranted to understand the pathogenesis of CdLS as a cohesinopathy and its genotype-phenotype correlations.

• Asian-Australasian Journal of Animal Sciences
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• 제15권3호
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• pp.445-452
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• 2002

The main objective of modern reproductive technologies in pig reproduction is to increase reproductive efficiency and rates of genetic improvement. They also offer potential for greatly extending the multiplication and transport of genetic materials and the conservation of unique genetic resources in reasonably available forms for possible future use. The development and refinement of these technologies is concentrating on gamete and embryo collection, sorting and preservation, in vitro production of embryos, culturing, manipulation of embryos (splitting, nuclear transfer, production of chimeras, establishment embryo stem cells, and gene transfer) and embryo transfer. Also, the development of these novel technologies is facilitated by modern equipment for ultrasonography, microscopy, cryopreservation, endoscopy, and flow cytometry, microinjectiors, micromanipulators and centrifugation. The real impact on herd productivity will come from combining new reproductive techniques with powerful DNA technologies. The new reproductive techniques will allow a rapid turnover of generations, whereas the DNA technology can provide selection, which does not need phenotypic information when the selection decisions are made.