• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.721-724
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• 2009

수막구균(Meningococcus) 질환은 보체계의 이상과 관련이 있을 수 있다. 보체 7번은 5개의 말단 보체 단백질(terminal complement protein) 중 하나로 이것이 결핍되면 보체의 세포를 용해하는 작용을 잃게 되어 반복적인 감염, 특히 수막구균 감염에 대한 감수성이 증가한다. 2003년 9월 고열, 하지 동통, 두통과 점상 출혈로 외래에 내원한 11세 된 여자 환자가 입원 후 급격히 혼수 상태로 빠졌으나 즉각적인 치료로 결국 완전히 회복되었다. 환자의 최종 진단은 수막구균성 패혈증과 관절염이었다. 환자의 오빠도 비슷한 세균성 뇌수막염 가족력이 있어 저자들은 보체계 검사와 유전자 돌연변이(gene mutation)에 대해 분석하였고, 환자와 환자의 오빠는 보체 7번 유전자의 exon 4에 G394C에 돌연변이가 있는 선천성 보체 7번 결핍 환자였고, 아빠는 보인자로 밝혀졌다. 저자들은 예방적으로 4가 수막구균 백신(tetravalent polysaccharide meningococcal vaccine, $Menomune^{(R)}$ A/C/Y/W-135, Aventis Pasteur, Canada)을 3년마다 접종하기로 하였고 2004년 10월에 처음으로 접종하였다. 그러나 2006년 9월 오빠는 급성 세균성 뇌수막염(meningoencephalitis)으로 사망하였다. 이에 저자들은 2년마다 예방적 접종을 하기로 하였고, 환자는 2008년 9월에 3번째로 접종하였으며 16세 된 환자는 현재까지 건강한 상태이다. 저자들은 수막구균 감염과 보체 7번 유전자 네번째 intron의 3' 말단 splice acceptor 위치에 G to T 돌연변이(g.IVS4-1G> T)가 있는 선천성 보체 7번 결핍을 가진 한국인 한 가족을 보고하는 바이다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권8호
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• pp.3791-3794
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• 2012

CD44v, especially splice variants containing exon v6, has been shown to be related closely to development of different tumors. High levels of CD44v6/v7 have been reported to be associated with invasiveness and metastasis of many malignancies. The objective of this study was to detect expression of CD44v6-containing variants in patients with acute promyelocytic leukemia (APL) and evaluate the potential of CD44v6/v7 for risk stratification. Reverse transcription polymerase chain reaction (RT-PCR) followed by PCR product purification, ligation into T vectors and positive clone sequencing were used to detect CD44 v6-containing variant isoforms in 23 APL patients. Real-time quantitative PCR of the CD44v6/v7 gene was performed in patients with APL and in NB4 cells that were treated with all-trans retinoic acid (ATRA) or arsenic trioxide ($As_2O_3$). Sequencing results identified four isoforms (CD44v6/v7, CD44v6/v8/v10, CD44v6/v8/v9/v10, and CD44v6/v7/v8/v9/v10) in bone marrow mononuclear cells of 23 patients with APL. The level of CD44v6/v7 in high-risk cases was significantly higher than those with low-risk. Higher levels of CD44v6/v7 were found in three patients with central nervous system relapse than in other patients inthe same risk group. Furthermore, in contrast to ATRA, only $As_2O_3$ could significantly down-regulate CD44v6/v7 expression in NB4 cells. Our data suggest that CD44v6/v7 expression may be a prognostic indicator for APL.

• Asian-Australasian Journal of Animal Sciences
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• 제21권4호
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• pp.465-470
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• 2008

This study describes genetic variability in the BoLA-DRB3 gene in Iranian native cattle (Bos Indicus and Taurus) and relationships between these breeds. This is the first study of genetic polymorphism of the BoLA-DRB3 gene in Iranian native cattle. We examined exon 2 of the major histocompatibility complex (MHC) class II DRB3 gene from 203 individuals in four populations of Iranian native cattle (52 Sarabi, 52 Najdi, 49 Sistani, 50 Golpayegani cattle) using the hemi-nested PCR-RFLP method. We identified the 36 previously reported alleles and one novel pattern (*eac). Analysis of the frequencies of the various BoLA-DRB3.2 alleles in each breed indicated that DRB3.2*52 in Sarabi cattle (23%), DRB3.2 *14 and *24 alleles in Najdi cattle (13%), DRB3.2 *8 allele in Sistani cattle (22%) and DRB3.2*16 allele in Golpayegani cattle (14%), were the most frequent alleles. Allelic frequencies ranged from 1 to 23% among the 36 alleles and there were some alleles that were found only in Iranian cattle. Effective number of alleles in the four breeds was estimated to be 7.86, 11.68, 7.08 and 3.37 in Sarabi, Najdi, Sistani and Golpayegani, respectively. Observed heterozygosities were the highest in Sarabi (94%) and Najdi (94%). A population tree based on the frequency of BoLA-DRB3.2 alleles in each breed suggested that Najdi, Sarabi and Golpayegani cattle clustered together and Najdi and Sarabi were the closest breeds. Sistani cattle differed more from these three breeds. These new data suggest that allele frequencies differ between Iranian cattle breeds.

• 한국수정란이식학회지
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• 제31권3호
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• pp.179-183
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• 2016

Even though klotho deficiency in mice exhibits multiple aging-like phenotypes, studies using large animal models such as pigs, which have many similarities to humans, have been limited due to the absence of cell lines or animal models. The objective of this study was to generate homozygous klotho knockout porcine cell lines and cloned embryos. A CRISPR sgRNA specific for the klotho gene was designed and sgRNA (targeting exon 3 of klotho) and Cas9 RNPs were transfected into porcine fibroblasts. The transfected fibroblasts were then used for single cell colony formation and 9 single cell-derived colonies were established. In a T7 endonuclease I mutation assay, 5 colonies (#3, #4, #5, #7 and #9) were confirmed as mutated. These 5 colonies were subsequently analyzed by deep sequencing for determination of homozygous mutated colonies and 4 (#3, #4, #5 and #9) from 5 colonies contained homozygous modifications. Somatic cell nuclear transfer was performed to generate homozygous klotho knockout cloned embryos by using one homozygous mutation colony (#9); the cleavage and blastocyst formation rates were 72.0% and 8.3%, respectively. Two cloned embryos derived from a homozygous klotho knockout cell line (#9) were subjected to deep sequencing and they showed the same mutation pattern as the donor cell line. In conclusion, we produced homozygous klotho knockout porcine embryos cloned from genome-edited porcine fibroblasts.

• Asian Pacific Journal of Cancer Prevention
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• 제14권7호
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• pp.4339-4345
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• 2013

Background: The purpose of this study was to evaluate the prevalence of BRCA1 (MIM: 113705) founder mutations in familial breast cancer (BC) patients with high risks in Iran. BRCA1 is among the cancer susceptibility genes best known for high penetrance mutations. BRCA1 genotyping is now used to determine patient counseling, management decisions, and prognosis of this syndrome. Materials and Method: Thirty nine patients with clinical BC and 29 high risk healthy women, related to the patients, participated in the study. DNA from blood samples was extracted and analyzed by PCR and SSCP methods in order to find 185delAG and 5382insC founder mutations. In addition, a 251bp fragment of BRCA1's exon 11 was amplified and analyzed for determination of new mutations. Results: The data indicated the presence of 185delAG and 5382insC founder mutations in both groups studied. Two out of 39 BC patients (5.1%) and one out of 29 relatives (3.4%) were suspected to be carriers of 185delAG mutations. However, we found only one patient (2.6%) to be a carrier of a 5382insC mutation. Also, 2 women (5.1%) of the patient group and 3 n (10.3%) of relatives group were identified as carriers of unclarified mutations in the 251bp fragment of the BRCA1 gene. The carriers of BRCA1 founder mutations have a high lifetime risk of breast cancer. Conclusions: Therefore, these data are useful in counseling of individuals with a significant family history of breast cancer.

• 자연과학논문집
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• 제9권1호
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• pp.31-37
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• 1997

세포의 자살 현상은 항암제를 이용한 치료법에 있어 중요하다. p53 은 세포 자살을 유발하여 암세포를 죽이는 핵심적 요소임이 밝혀졌다. 그러나 최근의 연구는 p53 과 무관한 세포 자살 경로가 있음을 보였다 (Gaftenhaus 외, 1996). 본 저자들은 유전독성적 항암제인 아드리아마이신에 의하여 유도된 세포 자살 과정에서 p53 유전자의 돌연변이가 일어나는지를 관찰하였다. 그러므로 본 연구는 아드리아마이신에 의하여 유도된 세포 자살 과정에서 HeLa 세포 집단에서의 p53 유전자의 돌연변이 상태를 조사하였다. DNA 분절 현상으로 관찰한 바, 본 실험 조건하에서는 아드리아마이신을 1 uM 농도로 12 시간 처리하였을 때 세포 자살 현상이 일어났다. p53 유전자의 돌연 변이 상태를 관찰하고자 돌연변이 빈발 부위가 존재한다고 알려진 exon 5, 7 및 8 부위를 종합 효소연쇄반응으로 증폭변화는 관찰되지 않았다. 그러므로 본 연구는 p53 유전자 손상없이 아드리아마이신에 의하여 세포 자살이 유도됨을 밝혔다.

• Asian-Australasian Journal of Animal Sciences
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• 제29권1호
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• pp.29-35
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• 2016

The aim of the present study was to investigate the effect of single nucleotide polymorphisms in the major histocompatibility complex (MHC) class II gene on resistance to Newcastle disease virus and body weight of the Thai indigenous chicken, Leung Hang Khao (Gallus gallus domesticus). Blood samples were collected for single nucleotide polymorphism analysis from 485 chickens. Polymerase chain reaction sequencing was used to classify single nucleotide polymorphisms of class II MHC. Body weights were measured at the ages of 3, 4, 5, and 7 months. Titres of Newcastle disease virus at 2 weeks to 7 months were determined and the correlation between body weight and titre was analysed. The association between single nucleotide polymorphisms and body weight and titre were analysed by a generalized linear model. Seven single nucleotide polymorphisms were identified: C125T, A126T, C209G, C242T, A243T, C244T, and A254T. Significant correlations between log titre and body weight were found at 2 and 4 weeks. Associations between single nucleotide polymorphisms and titre were found for C209G and A254T, and between all single nucleotide polymorphisms (except A243T) and body weight. The results showed that class II MHC is associated with both titre of Newcastle disease virus and body weight in Leung Hang Khao chickens. This is of concern because improved growth traits are the main goal of breeding selection. Moreover, the results suggested that MHC has a pleiotropic effect on the titre and growth performance. This mechanism should be investigated in a future study.

• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3623-3626
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• 2016

Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 5-10% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene. Our objective in the current study was to analyze mutations in related to breast cancer. A total of 271 individuals including breast cancer patients and normal subjects were enrolled and all 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere.

• The Korean Journal of Physiology and Pharmacology
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• 제19권4호
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• pp.319-325
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• 2015

Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and $12.74{\mu}M$, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.289-289
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• 2022

Waterlogging tolerance of corn is one of the important factor for cultivate in paddy soil condition to increase cultivation area and self-sufficiency of corn in Korea. In order to develop elite waterlogging tolerance corn, the new corn lines bred by crossing wild corn, Teosinte, and cultivated corn inbred lines. Five accessions among the 2 species, Zea mays sub spp. mexicana and Zea mays spp. parviglumis, of 81 Teosinte were selected through the waterlogging treatment. The waterlogging treatments were implemented for 7 days at the seedling(V3) stage. The inbred lines were developed by crossing 5 teosinte accessions and cultivated corn lines and they were estimated waterlogging tolerance. It was screened and analyzed the metabolites extracted from roots of 19KT-32(KS141 × teosinte) that was treated waterlogging. We selected 8 of 180 metabolites like as γ-aminobutyric acid(GABA), putrescine, citrulline, Gly, and Ala that expression was remarkably changed over 2.5-times, 7 metabolites increased and 1 metabolite decreased in waterlogging, respectively. Glutamate decarboxylase(GAD) catalyzing GABA accumulation gene have 10 haplotypes, and exon1 was highly conserved, but identified to 135 SNPs after the first intron. Among the 135 SNPs, the number of transversion mutations (52) surpassed the number of transition mutations (38). Most of metabolites were related to abiotic stress in plant that it regulated to pH, osmotic pressure K⁺/Ca⁺⁺ and ATPase activity. We are analyzing the association using these results for increase breeding efficiency.