• Journal of Genetic Medicine
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• 제4권2호
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• pp.133-141
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• 2007

목 적:임상증상으로 정신지체, 발육부진, 소두증 등으로 묘성 증후군(Cri du Chat syndrome, CdCs)으로 의뢰된 20명 환자와 부모를 포함한 분자 및 세포유전학적 결과를 분석하므로, 유전형과 표현형과의 상관관계를 고찰하고자 하였다. 방 법:환자와 부모에 대해 분자세포유전학적(FISH, CGH array)및 세포유전학적 분석을 시행하였고, 이와 함께 임상양상에 대한 비교분석을 시행하였다. 결 과:20명 환자에 대한 5p 결실 양상에 대한 분석 결과 del(5)(p14)이 9명(45%)로 가장 많았으며, del(5)(p13)이 7명(35%), del(5)(p15.1)(15%)이 3명, del(5)(p15.2)이 1명(5%) 순의 결실 양상을 확인하였다. 또한 4명(20%)에서는 5p 결실 외에 다른 염색체(6, 8, 18, 22번)의 결실과 중복이 있음이 확인 되었고, 이중 3명의 환자는 부모 중 한 사람의 균형적 전자에서 기원한 불균형 전자 유형이었다(기원은 부계 2명, 모계 1명). 그리고 5p 결실 부위와 다른 염색체 이상 공존 여부에 따라 매우 다양한 임상적 양상을 나타내었다. 결 론:이와 같이 묘성증후군 환자와 부모를 포함하는 5번 염색체 단완의 결실양상에 대한 분자 세포 유전학 분석에 의한 정확한 결실 부위의 확인과 다른 염색체 이상의 결손과 증폭의 공존 여부를 확인함으로써 유전형과 임상적 표현형과의 상관관계를 이해하는데 유용할 것이라 생각된다. 나아가 묘성 증후군 환자와 가족에 대한 효과적인 유전상담에 도움이 될 것이라 사료된다.

• Asian Pacific Journal of Cancer Prevention
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• 제17권5호
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• pp.2629-2635
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• 2016

Genetic polymorphisms constitute one of the reasons behind the racial variation in prostate cancer occurrence. Published studies regarding genetic associations of glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) null deletion polymorphisms with prostatic carcinoma have generated inconsistent results among different populations. To date, even a single meta-analysis is not available representing the association of these genes with prostate cancer in different ethnic groups. Therefore, the aim of the current study was to provide a clear picture of GSTM1 and GSTT1 null deletion and risk of prostate cancer among different ethnic groups (i.e. Asians, Europeans, Americans, Africans and Eurasians). A systematic search was performed with the help of various search engines to find out the all the recent studies (2004 to 2015) evaluating the role of GSTM1 and GSTT1 deletion in prostate cancer development. Odds ratios (ORs) with 95% confidence interval (CI) of a total of 34 studies with 7,281 cases and 9,082 controls was analyzed using STATA and MedCalc software. Overall, GSTM1 deletion (OR 3.67; CI 1.39-9.85; P= 0.001) was strongly associated with prostatic cancer. In the sub group analysis GSTM1 null deletion was also significantly associated with prostate cancer among Asians (OR 4.84; CI 1.08-21.5; P= 0.03), Eurasians (OR 17.69; CI 9.87-31.70; P< 0.001) and Americans (OR 0.11; CI 0.01-1.06; P= 0.05). No association was observed among Europeans (P=0.42) and Africans (P= 0.40). As a whole GSTT1 null deletion (OR 0.85; CI 0.28-2.58; P= 0.77) did not show anyt significant association with prostate cancer risk among different populations. When the data were stratified into different groups, however, Africans demonstrated a significant association of GSTT1 null deletion (OR 1.95; CI 1.57-2.39; P<0.001) with prostate cancer, whereas no association was found among Asians (P= 0.90), Americans (P= 0.50), Europeans (P= 0.89) and Eurasians (P= 1.0). In conclusion, both GSTM1 and GSTT1 may contribute to prostate cancer development but GSTM1 may prove to be a stronger candidate risk factor.

• 생명과학회지
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• 제31권7호
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• pp.626-630
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• 2021

본 연구는 랜드레이스와 제주재래흑돼지 교잡축군에서 MYH3 6-bp 결실 변이 유전자형과 육색 형질간의 상관관계를 분석하였다. 돼지의 등심(longissimus dorsi), 상완세갈래근(triceps brachii), 대퇴두갈래근(biceps femoris), 반막모양근(semimembranosus)을 이용하였다. 총 187두의 등심, 상완세갈래근, 대퇴두갈래근, 반막모양근에서 육색 형질인 적색도(CIE a^*), 황색도(CIE b^*), 명도(CIE L^*)를 조사하였다. Mismatch primer 세트를 이용하여 MYH3 6-bp 결실 변이 QQ, Qq, qq의 세가지 유전자형을 확인하였고, 그 빈도는 각각 0.358, 0.551, 0.091를 확인하였다. 적색도, 황색도, 명도와 MYH3 6-bp 결실변이 유전자형간의 상관관계를 확인한 결과 등심(p>0.05, p<0.001, p<0.001), 상완세갈래근(p<0.001, p<0.001, p<0.001), 대퇴이두근(p<0.01, p<0.001, p<0.001), 반각모양(p>0.05, p<0.001, p<0.001) 부위에서 QQ 유전자형이 qq 유전자형 보다 높은 결과를 확인하였다. 이번 연구에서 랜드레이스와 제주재래흑돼지 교잡축군에서 적색도, 황색도, 명도를 높일 수 있을 것이며, 또한 MYH3 6-bp 유전자 다형성을 이용하여 제주재래흑돼지를 이용한 교배프로그램에서의 육색 형질 향상을 위한 유전적 마커로서 사용되어 돼지고기 육질 향상에 도움될 것으로 사료된다.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• International Journal of Oral Biology
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• 제42권2호
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• pp.79-83
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• 2017

Abnormal HLA-G expression occurs in various diseases such as melanoma, renal cell carcinoma, asthma, and classic Hodgkin's lymphoma. The purpose of this study was to determine whether HLA-G gene is linked with oral squamous cell carcinoma (OSCC). To investigate the possible link with susceptibility to OSCC, 54 OSCC patients and 120 healthy controls were enrolled in this study. HLA-G 14bp insertion/deletion polymorphism is in 3'-untranslated region of HLA-G gene. HLA-G 14bp insertion/deletion polymorphism was analyzed using the polymerase chain reaction (PCR) method. For the analysis of genetic data, SPSS18.0 program was used. Logistic regression models were performed for odds ratio (OR), 95 percent confidence interval (CI), and P value. There was a significant difference in distribution allele between OSCC patients and control subjects (OR=0.018, 95% CI=0.002-0.131, p<0.001). Our results suggest that HLA-G 14bp insertion/deletion polymorphism may be linked with susceptibility to OSCC in the Korean population.

• Journal of Ginseng Research
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• 제35권4호
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• pp.413-420
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• 2011

We investigated whether Korean red ginseng (KRG) and highly active antiretroviral therapy (HAART) affect the frequency of gross deletion in 5'LTR/gag in 20 hemophiliacs. This study is a prospective study in 20 hemophiliacs who were infected with Korean subclade B of HIV-1 from two cash-paid plasma donors in 1990. Over a 13-year period, we obtained 436 amplicons of 5'LTR/gag genes by nested polymerase chain reaction using 147 peripheral blood mononuclear cells. Of the 436 amplicons, 92 (21.1%) showed gross deletion in 5'LTR/gag. Despite of a 2.3-fold higher monthly dose of KRG intake, the frequency of gross deletion in 5'LTR/gag (16.4%) was significantly decreased during HAART compared with 28.1% prior to HAART (p<0.01). Gross deletion in 5'LTR/gag was 10% more detected on KRG-therapy than prior to KRG-therapy (p<0.05). In addition, we also obtained 28 amplicons containing premature stop codon or isoleucine at initiation codon of 254 amplicons sequenced on KRG intake (7.5%) or HAART (13.6%) compared with 0% before KRG intake. These findings indicate that high frequency of gross deletion in 5'LTR/gag and genetic defects prior to HAART are significantly associated with KRG intake and the detection of gross deletion in 5'LTR/gag is decreased by HAART.

• Asian-Australasian Journal of Animal Sciences
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• 제17권11호
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• pp.1491-1495
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• 2004

Small Tail Han Sheep has significant characteristics of high prolificacy and non-seasonal ovulatory activity and is an excellent local sheep breed in P. R. China. Recently a novel member of the transforming growth factor $\beta$ (TGF$\beta$) superfamily termed bone morphogenetic protein 15 (BMP15) was shown to be specifically expressed in oocytes and to be essential for female fertility. Therefore, BMP15 is a candidate gene for reproductive performance of Small Tail Han Sheep. The whole genomic nucleotide sequence of BMP15 gene in Small Tail Han Sheep was searched for polymorphisms by PCR-SSCP and direct sequencing, and only one polymorphism was found. The polymorphism was a result of a 3 base pair deletion, which eliminated a single Leu codon (CTT). The allelic frequencies for A (without deletion) and B (with a codon deletion) are 0.73 and 0.27 respectively. The effects of BMP15 genotype on litter size were evaluated using the least squares model. This indicated that there was a significant association between litter size of Small Tail Han Sheep and a deletion in BMP15 gene (p=0.02<0.05). Small Tail Han Sheep ewes with AA and AB genotype produce on average 0.5 and 0.3 more lambs per litter than those ewes with BB genotype.

• 대한골관절종양학회지
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• 제6권4호
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• pp.143-151
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• 2000

목적 : p53 종양억제 유전자는 사람의 암에서 변형이 가장 많이 발견되는 유전자로 유잉 육종에서 p53 유전자의 변형을 관찰하고자 하였다. 재료 및 방법 : 유잉육종 환자 35례의 파라핀 블록을 사용하였으며, 유전자의 결핍과 p53 유전자의 염기서열의 변형을 관찰하였다. 결과 : 정성적인 중합효소 연쇄반응을 이용한 p53의 4-9번까지의 유전자검사중 2례에서 동일성의 유전자 결핍이 관찰되었으며, exon 5-8의 유전자 중합효소 연쇄반응에서는 3례에서 missense 점돌연변이가 관찰되었다. 결론 : 이상의 결과로 p53은 유전적으로 적은 부분에서 유잉육종에 관여하는 것으로 관찰 되었다.

• 미생물학회지
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• 제30권2호
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• pp.141-148
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• 1992

In order to overexpress bacteriophage PRD1 DNA polymerase in E. coli cells, the 2 kb HaeII fragment was isolated from phage genomic DNA. This fragment was then cloned into pEMBL/sup ex/ 3-expression vector. A specific 57bp deletion was performed by using uracil containing ss DNA and oligonucleotide spanning each region to remove an unwanted non-coding region. After this deletion, the PRD1 DNA polymerase gene is totally under the control of the vector promoter and SD sequence. Upon heat induction, a protein with an apparent size of 68 kdal was overexpressed as an active PRD1 DNA polymerase. The expression of PRD1 DNA polymerase was about 1% of total E. coli protein.

• Molecules and Cells
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• 제38권4호
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• pp.312-317
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• 2015

Depletion of intracellular zinc by N,N,N,N-tetrakis(2-pyridylmethyl) ethylenediamine (TPEN) induces p53-mediated protein synthesis-dependent apoptosis of mouse cortical neurons. Here, we examined the requirement for poly(ADP-ribose) polymerase (PARP)-1 as an upstream regulator of p53 in zinc depletion-induced neuronal apoptosis. First, we found that chemical inhibition or genetic deletion of PARP-1 markedly attenuated TPEN-induced apoptosis of cultured mouse cortical neurons. Poly(ADP-ribosyl)ation of p53 occurred starting 1 h after TPEN treatment. Suggesting the critical role of PARP-1, the TPEN-induced increase of stability and activity of p53 as well as poly(ADP-ribosyl)ation of p53 was almost completely blocked by PARP inhibition. Consistent with this, the induction of downstream pro-apoptotic proteins PUMA and NOXA was noticeably reduced by chemical inhibitors or genetic deletion of PARP-1. TPEN-induced cytochrome C release into the cytosol and caspase-3 activation were also blocked by inhibition of PARP-1. Taken together, these findings indicate that PARP-1 is essential for TPEN-induced neuronal apoptosis.