• Journal of Interdisciplinary Genomics
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• 제3권1호
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• pp.1-6
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• 2021

Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

• Perinatology
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• 제29권4호
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• pp.185-188
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• 2018

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• 한국작물학회지
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• 제31권1호
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• pp.16-18
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• 1986

보리 F$_2$용 종자에 대한 찰성유전자(wx)와 분장성 전분유전자(fra)에 대한 유전현상을 구명하고 또 이들 두 유전자간에 관계를 구명키 위하여 실험을 한바 그 결과는 아래와 같다. 1 찰성 및 전분상성 배분인자는 각각 1개의 열성유전자가 관여하였으며, 2. 찰성과 분장성 전분유전자는 각각 독립적으로 작용하였다.

• 한국응용곤충학회지
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• 제19권3호
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• pp.156-162
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• 1980

벼 흰빛잎마름병의 저항성의 품종간 차이와 그 유전양식을 조사하여 저항성품종육성의 기초자료로 활용코저 몇 가지 시험을 수행하여 얻어진 결과는 다음과 같다. 1. 최고분얼기와 출수기때의 저항성정도는 품종에 따라 상이한 반응을 보였고 공시품종중에서 IR2061-465-1-5-5, IR2061-553-6-9, IR1561-228-3-3, 밀양 42호는 공시된 3균주에 대해 최고분얼기나 출수기에 모두 높은 저항성을 보였다. 2. 질적저항성이 동일한 품종군에 속하는 품종중에서도 저항성정도의 양적인 차이는 크게 인정되었고, 그 차는 품종군별로는 밀양 23호군에서 균주별로는 II 균군에서 크게 나타났다. 3. IR2061-465-1-5-5와 IR1561-228-3-3의 II균군에 대한 저항성의 유전은 $F_1,F_2$ 및 $F_3$ 세대의 분리양상으로 보아 $1\~2$개의 유전인자에 의해 저항성이 지배된다고느 보기 어렵고 상당수의 유전인자가 이에 관여하는 것으로 생각된다.

• Journal of Plant Biotechnology
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• 제47권2호
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• pp.118-123
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• 2020

The black seed coat of soybeans contain anthocyanins which promote health. However, mature soybean seeds contain anti-nutritional factors like lipoxygenase, lectin and Kunitz Trypsin Inhibitor (KTI) proteins. Furthermore, these seeds can be used only after the genetic elimination of these proteins. Therefore, the objective of this study was to develop novel soybean genotypes with black seed coat and triple recessive alleles (lx1lx1lx2lx2lx3lx3, titilele) for lipoxygenase, lectin, and KTI proteins. From a cross of parent1 (lx1lx2lx3/lx1lx2lx3, ti/ti, Le/Le) and parent2 (lx1lx2lx3/lx1lx2lx3, Ti/Ti, le/le), 132 F₂ seeds were obtained. A 3:1 segregation ratio was observed during F₂ seed generation for the inheritance of lectin and KTI proteins. Between a cross of the Le and Ti genes, the observed independent inheritance ratio in the F₂ seed generation was 9: 3 : 3 : 1 (69 Le_Ti_: 32 leleTi_: 22 Le_titi: 9 leletiti) (χ²=2.87, P=0.5 - 0.1). From nine F₂ seeds with triple recessive alleles (lx1lx1lx2lx2lx3lx3, titilele genotype), one novel strain posessing black seed coat, and free of lipoxygenase, lectin and KTI proteins, was selected. The seed coat color of the new strain was black and the cotyledon color of the mature seed was green. The weight of 100 seeds belonging to the new strain was 35.4 g. This black soybean strain with lx1lx1lx2lx2lx3lx3, titilele genotype is a novel strain free of lipoxygenase, lectin, and KTI proteins.

• Asian-Australasian Journal of Animal Sciences
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• 제30권1호
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• pp.8-19
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• 2017

Objective: A whole genome association study was conducted to identify single nucleotide polymorphisms (SNPs) with additive and dominant effects for growth and carcass traits in Korean native cattle, Hanwoo. Methods: The data set comprised 61 sires and their 486 Hanwoo steers that were born between spring of 2005 and fall of 2007. The steers were genotyped with the 35,968 SNPs that were embedded in the Illumina bovine SNP 50K beadchip and six growth and carcass quality traits were measured for the steers. A series of lack-of-fit tests between the models was applied to classify gene expression pattern as additive or dominant. Results: A total of 18 (0), 15 (3), 12 (8), 15 (18), 11 (7), and 21 (1) SNPs were detected at the 5% chromosome (genome) - wise level for weaning weight (WWT), yearling weight (YWT), carcass weight (CWT), backfat thickness (BFT), longissimus dorsi muscle area (LMA) and marbling score, respectively. Among the significant 129 SNPs, 56 SNPs had additive effects, 20 SNPs dominance effects, and 53 SNPs both additive and dominance effects, suggesting that dominance inheritance mode be considered in genetic improvement for growth and carcass quality in Hanwoo. The significant SNPs were located at 33 quantitative trait locus (QTL) regions on 18 Bos Taurus chromosomes (i.e. BTA 3, 4, 5, 6, 7, 9, 11, 12, 13, 14, 16, 17, 18, 20, 23, 26, 28, and 29) were detected. There is strong evidence that BTA14 is the key chromosome affecting CWT. Also, BTA20 is the key chromosome for almost all traits measured (WWT, YWT, LMA). Conclusion: The application of various additive and dominance SNP models enabled better characterization of SNP inheritance mode for growth and carcass quality traits in Hanwoo, and many of the detected SNPs or QTL had dominance effects, suggesting that dominance be considered for the whole-genome SNPs data and implementation of successive molecular breeding schemes in Hanwoo.

• Current Research on Agriculture and Life Sciences
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• 제9권
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• pp.127-133
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• 1991

역병에 저항성인 PI201232와 더뎅이병 저항성인 PI271322와 PI163192를 교배하여 각 병해에 대한 저항성과 두가지 병해 저항성간의 유전적 관계를 검토하였다. 더뎅이병균 race 3에 대한 PI271322의 비과민반응형 저항성은 양적으로 유전하였다. PI201232의 역병에 대한 저항성은 2개의 우성유전자에 가까운 양식으로 유전하였다. PI271322의 더뎅이병균 race 1에 대한 과민반응형 저항성은 한개의 우성유전자 양식으로 유전하였다. PI163192는 더뎅이병균 race에 비특이적으로 저항성이었으며 우성효과가 큰 양적유전 양식으로 유전하였다. 더뎅이병균에 대한 저항성은 역병에 대한 저항성과는 독립적으로 유전하였다.

• Current Research on Agriculture and Life Sciences
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• 제15권
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• pp.1-5
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• 1997

벼의 유묘기 저온처리하에 나타나는 chlorosis현상의 유전양식을 규명하기 위하여 실험한 결과를 요약하면 다음과 같다. 벼 21 공시품종 유묘기 저온 ($18^{\circ}C$)처리에서 chlorosis가 나타나는 품종은 통일형인 "밀양23호"와 인디카형인 "IR 36", "Dular"로 3품종이었고, 모든 자포니카형 품종에서는 chlorosis가 나타나지 않았다. 저온처리하의 엽록소 함량 감소는 품종군과 재배종간에 다양한 차이를 나타내었다. Dular와 Toyohatamochi가 교배된 $F_2$ 집단에서 저온처리에 의해 나타나는 제 3엽의 chlorosis 현상에 대한 분리비는 정상 개체와 chlorosis 개체가 3 : 1의 이론적 분리비 적합하였다. 이결과로 벼의 유묘기 chlorosis의 유전은 단순열성 유전자에 의해 지배 되는 것으로 분석되었다.

• International Journal of Industrial Entomology and Biomaterials
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• 제7권1호
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• pp.15-20
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• 2003

The present investigation was carried out to study the possible cause for reciprocal difference in silkworm hybrids. By utilising the polyvoltine race Pure Mysore (PM) and newly evolved breeds (CSR2, CSR5, CSR16 and CSR17), the direct and reciprocal crosses of polyvoltine ${\times}$ bivoltine and also bivoltine hybrids were studied. The hybrids of polyvoltine ${\times}$ bivoltine (direct) are superior to their reciprocal crosses in respect of cocoon yield, cocoon weight and filament length. The reciprocal crosses of polyvoltine ${\times}$ bivoltine are superior to their direct crosses in respect of fecundity and short larval duration. No significant differences were observed in the characters like cocoon shell ratio, raw silk percentage, denier, reelability and neatness in both polyvoltine ${\times}$ bivoltine direct crosses and their reciprocals. The expression of cocoon characters as a function of sex revealed that direct crosses (polyvoltine ${\times}$ bivoltine) showed higher cocoon weight, pupal weight, shell weight and longer filament length in females than the reciprocal crosses (bivoltine ${\times}$ polyvoltine), where as these characters in males were almost the same in both direct and reciprocal crosses, indicating that the sex-linked genetic factor played a more important role. it was clear that difference in cocoon yield observed in reciprocal crosses of polyvoltine ${\times}$ bivoltine was due to the low cocoon and shell weight in females which was turn due to presence of early maturity genes (Lme) linked with sex-chromosome (X) which effect on larvae period of the silkworm. In bivoltine hybrids, i.e., both direct and their reciprocals crosses, all the characters viz., hatching percentage, larval duration, survival, cocoon weight, cocoon shell weight, cocoon shell ratio, raw silk percentage, filament length, denier, reelability and neatness did not show any significant difference (except number of eggs laid by moth) which could account for presence of same maturity genes (Lm) in both direct and reciprocal crosses. it was clear that reciprocal differences occur when the hybrids are prepared from the parental strains with different voltinism.