• Animal Systematics, Evolution and Diversity
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• 제36권4호
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• pp.347-353
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• 2020

Although sea slaters Ligia have a significant role in rocky shore habitats, their taxonomic entities have not been clearly understood. In this study, we investigated whether genetic variation inferred from a nuclear genetic marker, namely amplified fragment length polymorphism (AFLP), would conform to that of a mitochondrial DNA marker. Using both the mitochondrial DNA marker and the AFLP marker amplified by the six selective primer sets, we analyzed 95 Ligia individuals from eight locations from East Asia. The direct sequencing of mitochondrial 16S rRNA gene revealed three distinct genetic lineages, with 9.8-11.7 Kimura 2-parameter genetic distance. However, the results of AFLP genotyping analysis with 691 loci did not support those of mitochondrial DNA, and revealed an unexpectedly high proportion of shared polymorphisms among lineages. The inconsistency between the two different genetic markers may be explained by difference in DNA evolutionary history, for example inheritance patterns, effective population size, and mutation rate. The other factor is a possible genomic island of speciation, in that most of the genomic parts are shared among lineages, and only a few genomic regions have diverged.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7021-7027
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• 2014

Background: The problem of cancer, especially lung cancer, is very acute in Bangladesh. The present study was conducted to evaluate the risk of lung cancer among Bangladeshi people based on hereditary, socio-economic and demographic factors. Materials and Methods: This study was carried out in 208 people (patients-104, controls-104) from January 2012 to September 2013 using a structured questionnaire containing details of lung cancer risk factors including smoking, secondhand smoke, tobacco leaf intake, age, gender, family history, chronic lung diseases, radiotherapy in the chest area, diet, obesity, physical activity, alcohol consumption, occupation, education, and income. Descriptive statistics and testing of hypotheses were used for the analysis using SPSS software (version 20). Results: According to this study, lung cancer was more prevalent in males than females. Smoking was the highest risk factor (OR=9.707; RR=3.924; sensitivity=0.8872 and P<0.0001) followed by previous lung disease (asthma, tuberculosis etc.) (OR=7.095; RR=1.508; sensitivity=0.316 and P<0.0001)) for male patients. Highly cooked food (OR=2.485; RR=1.126; sensitivity=0.418 and P=0.004)) and also genetic inheritance (OR=1.93; RR=1.335; sensitivity=0.163 and P=0.138) demonstrated significant correlation with lung cancer as risk factors after these two and alcohol consumption was not prevalent. On the other hand, for female patients, tobacco leaf intake represented the highest risk (OR=2.00; RR=1.429; sensitivity= 0.667 and P=0.5603) while genetic inheritance and highly cooked food also correlate with lung cancer but not so significantly. Socioeconomic status and education level also play important roles in causing lung cancer. Some 78.5% male and 83.3% of female cancer patients were rural residents, while 58.2% lived at the margin or below the poverty line. Most male (39.8%) and female (50.0%) patients had completed only primary level education, and 27.6% male and 33.3% female patients were illiterate. Smoking was found to be more prevalent among the less educated persons. Conclusions: The results obtained in this study indicate the importance of creating awareness about lung cancer risk factors among Bangladeshi people and making appropriate access to health services for the illiterate, poor, rural people.

• 농업생명과학연구
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• 제46권6호
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• pp.1-8
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• 2012

본 시험은 한국 고추 육종에 이용되는 교배친의 고추맛에 관여하는 유전자의 유전가를 구명하기 위해 수행하였다. 고추맛과 원예적 특성이 상이한 '#1803'($P_1$)과 '#1532'($P_2$) 두 교배친을 교배하여 이들의 $F_1$, $F_2$ 세대를 본 시험의 공시 재료로 이용하였다. Partitioning method에 따라 고추맛은 A-a와 B-b 두 유효 유전자에 의하여 지배되는데 $F_1$ 세대는 우수 교배친 $P_1$보다 더 우수한 초우성 현상과 $F_2$ 세대는 초월 분리가 일부 나타났다. 고추맛의 유효 유전자 효과는 A-a 유전자에 의해 0.36, B-b 유전자에 의해 0.64가 증가하였다. 한국 고추맛은 유효 유전자간에서 0.94의 간섭효과와 최대 2.86의 제 2효과가 관여하여 복합적인 유전양식을 나타내었다.

• Clinical and Experimental Pediatrics
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• 제60권3호
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• pp.55-63
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• 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

• Archives of Plastic Surgery
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• 제47권3호
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• pp.203-208
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• 2020

Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often unsatisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genomics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific therapies. This article provides an introduction to genetic testing for vascular anomalies and presents a brief summary of the etiology and genetics of vascular anomalies.

• Journal of Genetic Medicine
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• 제20권1호
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• 응용통계연구
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• 제22권2호
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• pp.329-340
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• 2009

질적 형질에 대한 유전적 연관성 분석은 크게 두 가지로 구분 할 수 있는데, 모형 기반분석과 그렇지 않은 모형 무관 분석 방법이다. 복합질병의 경우 멘델의 유전법칙을 잘 따르지 않기 때문에 모형 기반 분석 방법을 사용하는 것보다 모형 무관 분석 방법을 사용하는 것이 효율적이라고 알려져 있다. 이러한 모형 무관 분석 방법 중 이환 형제 쌍 자료를 이용한 분석 방법은 형제 쌍 간의 유전적 일치 비율을 기준으로 공유하고 있는 대립유전자의 분포를 이용하는 것으로 크게 proportion test, mean test, minmax test로 구분 할 수 있다. 본 연구에서는 형제집단자료로 확장된 경우, 유전 형식에 상관없이 로버스트한 방법으로 알려진 minmax test에 형제 쌍의 가중치를 고려할 수 있는 방법들 즉, 동일 가중 방법, Suarez의 방법, Hodge의 방법, Sham 등의 방법을 적용하여 그 성능을 비교하였다. 모의실험 자료를 이용하여 비교한 결과 표식유전자의 빈도, 형질의 유전 형식, 형제수에 상관없이 Suarez의 방법이 가장 검정력이 높은 방법으로 드러났다. 또한, 동일 가중 방법을 제외하고는 표식유전자의 빈도가 높아질수록, 형제수가 많아질수록 더 높은 검정력을 보였고, 이러한 현상은 우성 유전 형식을 가정한 자료에서 더욱 두드러지게 나타났다.

• Asian Pacific Journal of Cancer Prevention
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• 제14권1호
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• pp.189-193
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• 2013

Many epidemiological studies in Asian populations have investigated associations between the Arg399Gln gene polymorphism of X-ray repair cross complementing gene 1 (XRCC1) and risk of cervical carcinoma, but no conclusions have been available because of controversial results. Therefore a meta-analysis was conducted for clarification. Relevant studies were identified by searching the Pubmed, Embase, the Web of Science, Cochrane Collaboration's database, Chinese National Knowledge Infrastructure (CNKI), Wanfang database and China Biological Medicinse (CBM) until September, 2012. A total of eight studies were included in the present meta-analysis, which described 1,759 cervical carcinoma cases and 2,497 controls. Odds ratios (ORs) and corresponding 95% confidence intervals (95%CIs) as effect size were calculated by fixed-effect or random-effect models. The overall results indicated that the XRCC1-399G/A polymorphism was marginally associated with cervical carcinoma in Asians: OR (95%CI): 1.16 (1.07, 1.26) in the G/A vs G/G inheritance model, 1.24 (0.87, 1.76)in A/A vs G/G inheritance model, 1.13 (1.01, 1.27) in the dominant inheritance model and 1.18 (0.94, 1.47) in the recessive inheritance model. Subgroup analyses on sample size showed no significant correlation in the small-sample size group but the large-sample size group was consistent with the outcomes of overall meta-analysis. In the subgroup analysis by regions, we only found significant association under the G/A vs G/G inheritance model in the Chinese population. For the non-Chinese populations, no correlation was detected in any genetic inheritance model. In the Asian populations, XRCC1-399G/A gene polymorphism was implied to be associated with cervical carcinoma.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• 생명과학회지
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• 제19권6호
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• pp.793-798
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• 2009

본 연구는 제주마에서 빈번하게 관찰되는 전신성 백모색 발생의 유전 양상과 유전적 변이와의 상관을 구명하기 위해 수행하였다. 백모색은 표현형과 MC1R 유전자형 분석 자료의 조합을 근거로 결정한 가라, 유마, 적다 등 모든 기본 모색에서 관찰되었다. 제주마에서는 타 품종들에서 KIT 유전자의 이형 접합성에 의해 발생하는 선천성 백색에 대한 잠재적 돌연변이 들은 발견되지 않았다. STX17 유전자의 intron 6 에서 4.6-kb 중복을 보유한 개체들에서 특이적으로 탈색된 백모색이 관찰되었다. 관찰기록과 STX17 유전자형에 따라 제주마에서 관찰되는 탈색된 백화현상은 총마(점진적 백화증, Gray) 로 확인되었다. 가계도 분석에서 총마 형질은 상동염색체성 우성유전형 질로 나타났으며 상동염색체성 열성형질인 albinism과도 구분되었다. 제주마에서 총마 모색이 자마 시기에는 명확하게 발현되는 않으며, 종종 다른 표현형들과 혼동을 일으키기도 하기 때문에, 총마와 이와 유사한 표현형으로 출생 시부터 혼합 모색을 나타내는 조모색, 상처 치료 후 백화, 백반 유사피부 백색증 등에 대한 추가 연구가 요구된다고 하겠다. 그럼에도 불구하고 총마와 유전적 배경의 관계를 구명한 본 연구결과는 제주마에서 분자육종을 위한 유용한 정보를 제공할 것으로 사료된다.