• Journal of Animal Science and Technology
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• 제48권1호
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• pp.1-8
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• 2006

포유동물에서 KIT 유전자는 우성 백색의 모색발현에 관여하는 후보유전자로서 mast/stem cell growth factor receptor를 암호화하는 것으로 알려져 있다. 본 연구에서는 한반도에서 서식하고 있는 야생멧돼지의 모색발현에 있어서 KIT 유전자의 유전적 변이를 확인하기 위하여 PCR- RFLP와 염기서열 분석을 수행하여 유전적 변이를 관찰하였다. 멧돼지 KIT 유전자의 exon17- intron 17 경계부위에 대한 NlaⅢ-RFLP 결과 splicing mutation이 없고, exon 19 상에서의 SNP C2678T에 대한 AciⅠ-RFLP 결과 역시 백색 품종들의 유전자형과는 다르게 나타났다. 이상의 결과는 멧돼지 집단 내 교잡에 의해 백모색의 자손이 출현하지 않음을 의미한다. 또한 exon 19과 exon 20에서 새로운 SNP들이 확인되었으며 이들 중 exon 20에서의 SNP A2760G는 아미노산의 변화(iso-leucine→valine)를 초래할 수 있으나 모색 발현과의 연관은 확인할 수 없었다. 돼지 KIT 유전자의 exon 19, 20과 intron 19 상에서의 새로 발견된 SNP와 splicing mutation의 존재 여부 등은 품종특이적인 양상으로 확인되었고, 이 같은 결과는 돼지에서 백색 모색 발현을 설명할 수 있는 좋은 자료가 될 것으로 사료된다.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.65-70
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• 1998

Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2 of human LAL gene changing of codon -6 of prepeptide from threonine to proline. The Thr-6Pro mutation was detected by the HaeIII restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP). We analyzed the mutation in subjects with 221 unrelated randomly selected control samples and 86 patients with familial hypercholesterolemia (FH) in Korea. We observed that mutation is present with high frequency in Korea compared to other populations studied previously. The frequency of PP homozygote in the FH group was observed considerably higher than that of control. However, there was no significant difference of genotype frequency between two groups. These results, together with the fact that plasma lipids and lipoproteins levels between genotypes showed no statistical difference, suggest that the Thr-6Pro mutation in the LAL gene may have no association with the increased risk of FH development.

• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3627-3629
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• 2016

Background: Activation and inactivation of nuclear factor of kappa light chain gene enhancer in B cells (NFKB) is tightly regulated to ensure effective onset and cessation of defensive inflammatory signaling. However, mutations within NFKB, or change in activation and inactivation molecules have been reported in a few cancers. Although oral squamous cell carcinoma is one of the most prevalent forms of cancer in India, with a development associated with malignant transformation of precancerous lesions, the genetic status of NFKB and relative rates of change in oral precancerous lesions remain unknown. Hence in the present study we investigated all twenty four exons of NFKB gene in two precancerous lesions, namely oral submucous fibrosis (OSMF) and oral leukoplakia (OL) to understand its occurrence, incidence and assess its possible contribution to malignant transformation. Materials and Methods: Chromosomal DNA isolated from twenty five each of OSMF and OL tissue biopsy samples were subjected to PCR amplification with intronic primers flanking twenty four exons of the NFKB gene. The PCR amplicons were subsequently subjected to direct sequencing to elucidate the mutation status. Results: Sequence analysis identified a novel heterozygous mutation, c.419T>A causing substitution of leucine with glutamine at codon 140 (L140Q) in an OL sample. Conclusions: The identification of a substitution mutation L140Q within the DNA binding domain of NFKB in OL suggests that NFKB mutation may be relatively an early event during transformation. To the best of our knowledge, this study is the first to have identified a missense mutation in NFKB in OL.

• The Plant Pathology Journal
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• 제16권2호
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• pp.105-109
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• 2000

The Pi-b is the rice gene conferring race specific resistance to the blast fungus Magnaporthe grisea race having a corresponding avirulence gene, AVR-Pi-b. All resistant cultivars have two copies of the Pi-b gene, but susceptible cultivars have a single copy of the gene. About 1 Kbp insertion sequence was detected in the open reading frame of the Pi-b gene from the susceptible cv. Nipponbare. The nature of insertion sequence was identified as a solo long terminal repeat (LTR) of new rice Tyl-copia-like retrotransposon. LTR was widely distributed in the rice genome. Various types of different patterns of restriction fragment length polymorphism of LTR were detected in indica cultivars, whereas a single type was detected from japonica cultivars. The insertion of LTR sequence in the Pi-b gene in the susceptible cultivar suggested that retrotransposon-mediated insertional mutation might played an important role in the resistance breakdown as well as evolution of resistance genes in rice.

• Childhood Kidney Diseases
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• 제20권2호
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• pp.88-91
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• 2016

Nephrogenic diabetes insipidus (NDI) can cause nonobstructive hydronephrosis. Congenital NDI (CNDI) is caused by a genetic mutation. This case report presents a 12-year-old girl who was incidentally diagnosed with nonobstructive hydronephrosis due to NDI caused by AQP2 gene mutation after being evaluated for microscopic hematuria found on routine health examination at school. The patient's medical and family history was unremarkable, and she complained of nocturia only at the time of the clinic visit. Bilateral hydronephrosis on abdominal ultrasonography prompted a water deprivation test, leading to diagnosis of NDI. Genetic study confirmed p.Asn (AAC)123Ser (AGC) in exon 2 of the AQP2 gene. Polyuria and hydronephrosis improved following arginine-vasopressin therapy. CNDI responsive to treatment should be considered as a possible cause of nonobstructive hydroureter.

• 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.

• 대한두경부종양학회지
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• 제19권2호
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• pp.121-126
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• 2003

Objectives: The c-kit gene encodes a transmembrane receptor-type tyrosine kinase, which is known to have a significant role in the normal migration and development of germ cells and melanocytes. In the previous studies of c-kit gene, c-kit expressions showed only in adenoid cystic carcinomas, lymphoepithelioma-like carcinomas and myoepithelial carcinomas, but not in others and mutation was not found in any types of salivary carcinoma. We investigate the c-kit expression which may be useful to differentiating adenoid cystic carcinomas from others, and mutation of the gene which may not be exist nor the mechanism of c-kit activation in salivary carcinomas. Material and Methods: The archival tissue samples from 42 salivary carcinomas of major and minor salivary glands were studied for c-kit expression by immunohistochemistry and gene mutation by polymerase chain reaction amplification and single strand conformational polymorphism. Results: The c-kit expressions were noted in 22/24 adenoid cystic carcinomas, 7/9 mucoepidermoid carcinomas, 2/3 acinic cell carcinomas, 3/4 malignant mixed tumors, and one undifferentiated carcinoma. The mutation of c-kit gene was found in 3/24 adenoid cystic carcinomas, 3/8 mucoepidermoid carcinomas, one acinic cell carcinoma, and 2/4 malignant mixed tumors. Conclusion: c-kit protein overexpression is seen in a variety of salivary gland carcinomas, and the mutation of the gene may be the mechanism of c-kit activation in these neoplasms.

• Clinical and Experimental Pediatrics
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• 제48권5호
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• pp.551-556
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• 2005

저자들은 혈소판 평균용적 및 혈소판 수의 감소, 심한 아토피 피부염 및 반복 감염을 임상적 증상으로 추정 진단된 WAS 환아로부터 WAS의 확진에 필수적인 분자학적 분석을 실시하여 WASP 단백질의 발현이 감소되어 있으며, WASP 유전자의 Exon 2, 번역 개시점으로부터 208번째의 염기서열 구아닌(g)이 아데닌(a)으로 변이되어 70번째 아미노산인 글라이신(Gly)이 알지닌(Arg)으로 변화된 missense 변이(G70A)를 발견하여 확진된 WAS 환자를 경험하였기에 문헌 고찰과 함께 이를 보고하는 바이다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3431-3436
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• 2012

Objective: X-ray cross-complementing group 4 (XRCC4) is a major repair gene for DNA double-strand breaks (DSB) in the non-homologous end-joining (NHEJ) pathway. Several potentially functional polymorphisms of the XRCC4 gene have been implicated in breast cancer risk, but individually published studies showed inconclusive results. The aim of this meta-analysis was to investigate the association between XRCC4 polymorphisms and the risk of breast cancer. Methods: The MEDLINE, EMBASE, Web of science and CBM databases were searched for all relevant articles published up to June 20, 2012. Potential associations were assessed with comparisons of the total mutation rate (TMR), complete mutation rate (CMR) and partial mutation rate (PMR) in cases and controls. Statistical analyses were performed using RevMan 5.1.6 and STATA 12.0 software. Results: Five studies were included with a total of 5,165 breast cancer cases and 4,839 healthy controls. Meta-analysis results showed that mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer, while rs2075685 (G>T) and rs10057194 (A>G) might decrease the risk of breast cancer. However, rs1805377 (A>G), rs1056503 (G>T), rs28360317 (ins>del) and rs3734091 (A>G) polymorphisms of XRCC4 gene did not appear to have an influence on breast cancer susceptibility. Conclusion: Results from the current meta-analysis suggest that the rs2075685 (G>T) and rs6869366 (G>T) polymorphisms of the XRCC4 gene might increase the risk of breast cancer, whereas rs2075685 (G>T) and rs10057194 (A>G) might be protective factors.

• 대한수의학회지
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• 제42권1호
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• pp.65-71
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• 2002

We have utilized the PCR-RFLP method to detect the ryanodine receptor(RYR1) gene mutation and to estimate the genotype frequencies of the RYR1 gene in commercial crossbred pig population. The exon region(659bp) including point mutation(C ${\rightarrow}$T; Arg ${\rightarrow}$Cys) in the porcine ryanodine receptor gene, which is a causal mutation for PSS, was amplified by PCR and digested with Cfo I restriction enzyme. The RYR1 gene was classified into three genotypes by agarose gel electrophoresis. The normal homozygous(NN) individuals showed two DNA fragments consisted of 493 and 166bp. The mutant homozygous(nn) individuals showed only one DNA fragment of 659bp. Also, all three fragments(659, 493 and 166bp) were showed in heterozygous(Nn) carrier animals. The proportions of normal, carrier and PSS pigs within crossbred population of pigs were 81%, 15% and 4%, respectively. According to the results of analysis of variance for the association of genotypes of RYR1 of pigs at 30kg, day age at 90kg and average daily gains, the RYR1 nn genotype was very higher than RYR1 NN genotype for day age at 30kg with 5% level of significant difference, but no significant difference for association of any other genotypes with day age at 90kg and average daily gain in crossbred pigs. Therefore, DNA diagnosis by using PCR-RFLP analysis for the PSS gene was useful for large-scale screening of commercial pigs in the swine industry.