• Childhood Kidney Diseases
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• 제9권2호
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• pp.175-182
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• 2005

목 적 : IL-1ra는 항염증반응을 가지고 있는 인자로서 IL-1 수용체와 결합하여, IL-l$\alpha$와 IL-1$\beta$의 결합을 경쟁적으로 억제시킴으로써, IL-1에 의해 매개되는 다양한 질환에서 중요한 내인성 조절인자로 작용한다. 이 유전자의 intron 2 부위에 86 bp 크기를 가지는 tandem repeat 에 의한 유전자 다형성이 존재하는데, 다양한 자가면역질환에서는 allele 2형의 빈도가 정상 인구군에 비해 유의하게 높다는 사실이 밝혀져 있다. 이에 저자들은 Henoch-$Sch{\ddot{o}}nlein$ Purpura 환자들을 대상으로 IL-1ra 유전자의 variable number tandem repeats(VNTR) 다형성을 검사하여 정상 대조군과 비교하였으며, 신장 침범 여부 및 중증의 경과에 $IL1RN^{*}2$가 어떤 영향을 미치는 지를 조사하였다. 방 법.: 1998년 1월부터 2002년 12월까지 부산 백병원 .소아과를 방문하여 Henoch-$IL1RN^{*}2$ purpura로 진단된 74명의 환자와 정상 대조군 43명을 대상으로 하였다. EDTA 처리된 전혈에서 상품화된 DNA 추출키트($QIAamp^{\circledR}$ DNA Blood Mini kit, Quiagen, USA)를 사용하여 DNA를 추출하였다. IL-1ra 유전자 다형성(polymorphysm)은 86 bp의 2, 3, 4, 5번의 반복횟수에 따라 각각 240 bp, 325 bp, 410 bp 또는 500 bp 크기의 밴드를 확인하여 결정하였다. 결 과 : HSP 환자군과 정상 대조군 모두에서 $IL1RN^{*}1$의 allele 빈도가 각각 $93.9\%,\;93.2\%$로 가장 높았으며, carriage rate도 각각 $98.6\%,\;97.9\%$로 가장 높았다. $IL1RN^{*}2$의 allele 빈도는 HSP 군에서 4.7$\%$로 대조군의 2.5$\%$에 비해 높았으나, 통계적으로 유의하지 않았다(P=0.794). Carriage rate도 HSP군에서 8.1$\%$로 대조군의 6.8$\%$에 비해 높았으나, 통계적으로 유의하지 않았다(P=0.915). $IL1RN^{*}2$의 allele 빈도는 신장 침범군에서 6.3$\%$로 비침범군의 2.9$\%$에 비해 높게 나타났으나 통계적으로 유의하지 않았다(P=0.356). Carriage rate는 신장 침범군에서 10.0$\%$, 비침범군에서 5.9$\%$였으며, 양군 사이에는 유의한 차이가 관찰되지 않았다(P=0.523). 24시간 채집뇨에서 측정한 총단백량이 1,000 mg 이상이었던 경우가 13명이었는데, 이들의 allele형은 $IL1RN^{*}1$이 11명이었으며, $IL1RN^{*}2와\;IL1RN^{*}4$형이 각각 1명씩 있었다. 마지막 추적관찰 시점까지 단백뇨가 지속되었던 환자는 4명이었으며 이들은 모두 $IL1RN^{*}1$형 이었다. 결 론 : HSP 환자군과 정상 대조군 모두에서 $IL1RN^{*}1$의 allele 빈도와 carriage rate가 가장 높았다. $IL1RN^{*}2$ allele 빈도와 carriage rate는 HSP 환자군에서 대조군과 비교하여 유의한 차이가 관찰되지 않았다. 또한 HSP 환자군에서도 $IL1RN^{*}2$ allele 빈도와 carriage rate는 신장 침범의 정도와도 유의한 관련성이 발견되지 않았다.

• Asian-Australasian Journal of Animal Sciences
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• 제21권4호
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• pp.471-477
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• 2008

The porcine PRKAG3 (RN) gene encodes the regulatory gamma subunit of adenosine monophosphate-activated protein kinase (AMPK), which is a good candidate gene affecting meat quality. In this study, the effects of two missense mutations A595G (Ile199Val) and G154A (Gly52Ser) in porcine PRKAG3 gene on meat quality traits were studied in M. Longissimus dorsi (LD), M. Semispinalis capitis (SC) and M. Biceps femoris (BF) from different populations of 326 pigs. The PRKAG3 alleles 199I, 199IV, 52S and 52G were identified with PCR-RFLPs and all genotypes - 199I/199I, 199I/199V, 199V/199V, 52S/52S, 52S/52G and 52G/52G - were found. The frequency of V allele was larger than that of I allele in all populations. I allele frequency was zero in Chinese Meishan pigs (population D) especially. G allele frequency was larger than that of S allele in all populations except Large White (population A). Both variations at the PRKAG3 locus significantly affected these meat quality traits. The pork meat quality has not previously been established in Meishan or crosses thereof. The results suggested that generally pH of LD, SC and BF was higher in Meishan pigs than that in other populations. Moreover, Meishan pigs showed higher water-holding capacity and intramuscular fat (IMF), lower water content and water loss percentage compared to other populations in terms of the two variations. The results present here supply new evidence that alleles V199I and G52S at the PRKAG3 locus affect pork meat quality and provide useful information on pork production.

• Journal of Animal Science and Technology
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• 제44권1호
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• pp.23-30
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• 2002

칡소와 비경흑색 한우의 MC1R 유전자의 유전자형를 조사하고 칡소의 모색 발현과 한우 비경색과의 관계를 규명하기 위하여 MC1R 유전자의 PCR-RFLP 분석을 수행하였다. 소에서 나타나는 6가지 유전자형($E^D/E^D,\;E^D/E^+,\;E^D/e,\;E^+/E^+,\;E^+$/e와 e/e) 중 칡소에서는 단지 2개의 유전자형 $E^+/E^+$와 $E^+$/e 만이 출현하였고, e/e 유전자형을 가지는 개체는 전혀 출현하지 않아 제주재래흑우에서와 같이 흑색 호반모가 발현되기 위해서는 기본적으로 $E^+$ allele이 필요한 것으로 사료되었다. 비경흑색 한우와 비경황색 한우에서는 모두 $E^+$/e 혹은 e/e 유전자형이 출현하였고 $E^+$와 e allele의 빈도는 각각 0.37, 0.63과 0.11, 0.89였다. 비록 $E^+$ allele의 빈도가 비경흑색 한우에서 비경황색 한우에서 보다 높았지만, $E^+$ allele과 비경 흑색과는 완전한 연관성은 없었다. 이러한 결과는 MC1R 유전자 분석이 칡소 뿐만 아니라 한우의 모색 고정에도 유용한 도구로 이용 가능함을 제시하고 있다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6121-6128
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• 2012

Radiation-induced side effects on normal tissue are determined largely by the capacity of cells to repair radiation-induced DNA damage. X-ray repair cross-complementing group 1 (XRCC1) plays an important role in the repair of DNA single-strand breaks. Studies have shown conflicting results regarding the association between XRCC1 gene polymorphisms (Arg399Gln, Arg194Trp, -77T>C and Arg280His) and radiation-induced side effects in patients undergoing whole breast radiotherapy. Therefore, we conducted a meta-analysis to determine the predictive value of XRCC1 gene polymorphisms in this regard. Analysis of the 11 eligible studies comprising 2,199 cases showed that carriers of the XRCC1 399 Gln allele had a higher risk of radiation-induced toxicity than those with the 399 ArgArg genotype in studies based on high-quality genotyping methods [Gln vs. ArgArg: OR, 1.85; 95% CI, 1.20-2.86] or in studies with mixed treatment regimens of radiotherapy alone and in combination with chemotherapy [Gln vs. ArgArg: OR, 1.60; 95% CI, 1.09-2.23]. The XRCC1 Arg399Gln variant allele was associated with mixed acute and late adverse reactions when studies on late toxicity only were excluded [Gln allele vs. Arg allele: OR, 1.22; 95% CI, 1.00-1.49]. In contrast, the XRCC1 Arg280His variant allele was protective against radiation-induced toxicity in studies including patients treated by radiotherapy alone [His allele vs. Arg allele: OR, 0.58; 95% CI, 0.35-0.96]. Our results suggest that XRCC1 399Gln and XRCC1 280Arg may be independent predictors of radiation-induced toxicity in post-surgical breast cancer patients, and the selection of genotyping method is an important factor in determining risk factors. No evidence for any predictive value of XRCC1 Arg194Trp and XRCC1 -77T>C was found. So, larger and well-designed studies might be required to further evaluate the predictive value of XRCC1 gene variation on radiation-induced side effects in patients undergoing whole breast radiotherapy.

• Asian Pacific Journal of Cancer Prevention
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• 제15권8호
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• pp.3705-3713
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• 2014

E-Cadherin (CDH1) genetic variations may be involved in invasion and metastasis of various cancers by altering gene transcriptional activity of epithelial cells. However, published studies on the association of CDH1 gene polymorphisms and cancer risk remain contradictory, owing to differences in living habits and genetic backgrounds. To derive a more better and comprehensive conclusion, the present meta-analysis was performed including 57 eligible studies of the association between polymorphisms of CDH1 gene promoter -160 C>A, -347 G>GA and 3'-UTR +54 C>T and cancer risk. Results showed that these three polymorphisms of CDH1 were significantly associated with cancer risk. For -160 C>A polymorphism, -160A allele carriers (CA and CA+AA) had an increased risk of cancer compared with the homozygotes (CC), and the similar result was discovered for the -160A allele in the overall analyses. In the subgroup analyses, obvious elevated risk was found with -160A allele carriers (AA, CA, CA+AA and A allele) for prostate cancer, while a decreased colorectal cancer risk was shown with the AA genotype. For the -347 G>GA polymorphism, the GAGA genotype was associated with increased cancer risk in the overall analysis with homozygous and recessive models. In addition, results of subgroup analysis indicated that the elevated risks were observed in colorectal cancer and Asian descendants. For +54 C>T polymorphism, a decreased risk of cancer was found in heterozygous, dominant and allele models. Moreover, +54T allele carriers (CT, CT+TT genotype and T allele) showed a potential protective factor in gastric cancer and Asian descendants.

• 농업과학연구
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• 제40권2호
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• pp.147-153
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• 2013

The aim of study was to investigate genetic diversity for the calpain/calpastatin gene in three Hanwoo breeds [(Brown (n=62), Brindle (n=81) and Jeju Black (n=30)]. Random samples from three breeds of Hanwoo were selected and genotyped for the 7 SNPs of calpain/calpastatin using TaqMan method. Allele frequencies were investigated for CAPN1/CAST gene. Allele frequency of CAST2 SNP was 0.75, 0.59 and 0.22 for Brown, Brindle and Jeju black, respectively. The CAST3 revealed allele frequency of 0.59 and 0.57 in Brown and Jeju Black, while it showed very low allele frequency (0.07) in Brindle. In particular, favorable allele (G allele) for the CAPN1-2 SNP which was shown a strong association with tenderness in Taurine and Indicine cattle revealed 16% and 17% higher allele frequency in Brown Hanwoo (0.82) comparing Brindle (0.66) and Jeju Black Hanwoo (0.65). AMOVA demonstrated that among population variance occupied only 10% of total variance and among individual variance was 0%, while within individual variance was 90% of total variance. This result showed that population effect contributed very small portion of genetic to these three Hanwoo breeds, while within individual variance contributed large portion of genetic diversity within these Hanwoo breeds. In conclusion, three Hanwoo breeds (Brown, Brindle and Jeju black) showed a genetically homogeneous based on the 7 SNPs of CAPN1/CAST gene and it came from same ancestor to form modern Hanwoo breed.

• Journal of Periodontal and Implant Science
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• 제35권2호
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• pp.299-310
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• 2005

The severe form of chronic periodontitis(CP) has been reported to be strongly associated with the presence of allele 2 of composite IL-1B(+3954) and IL-1A(+4845) genetic polymorphisms(genotype positive). However, other studies have reported conflicting findings. These might have resulted from differences in ethnic background and disease entities. The aim of this study was to determine the distribution of IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN(VNTR) genetic polymorphisms in children as a future Korean population. The study population consisted of 92 children from the Dept. of Pediatric Dentistry, Chonnam National University Hospital. Genomic DNA was obtained from buccal swab. The IL-1A(+4845), IL-1B(+3954), and IL-1B(-511) genes were genotyped by amplifying the polymorphic region using multiplex polymerase chain reaction(PCR), followed by restriction enzyme digestion and gel electrophoresis. IL-1 RN(VNTR) polymorphism were then evaluated by PCR amplification and fragment size analysis in agarose gel. The allele 2 frequency was 41.3%, 4.3%, 47.8%, and 9.9% for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN respectively. The frequency of genotype with allele 2 carriage for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN was 77.1%, 7.6%, 63.0%, and 15.2% respectively. The allele 2 frequency in IL-1B(+3954) was significantly higher in female than in male population(p<0.05). The negative association was shown between the presence of allele 2 in IL-1B(-511) and in IL-1B(+3954), and the carriage rate of IL-1B(+3954) allele 2 tended to lower in IL-1B(-511) allele 2(P=0.056). Only 7.3% of children carried the composite genotype of IL-1A(+4845) and IL-1B(+3954). These results suggest that the polymorphism of IL-1B(+3954) and the positive composite genotype was relatively rare in Korean population.

• BMB Reports
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• 제46권5호
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• pp.270-275
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• 2013

It is essential to analyze rare mutations in many fields of biomedical research. However, the detection of rare mutations is usually failed due to the interference of predominant wild-type DNA surrounded. Herein we describe a sensitive and facile method of detecting rare point mutation on the basis of allele-specific amplification in emulsion PCR. The identification and selective amplification of rare mutation are accomplished in one-pot reaction. The allele-specific primers coupled on magnetic beads allow the exclusive amplification and enrichment of the mutant amplicons. The productive beads bearing mutant amplicons are subsequently stained with the fluorescent dyes. Thus, the rare point mutations with a percentage as low as 0.1%, can be detected by fluorescent analysis. The relative percentages of mutation among different samples can be roughly accessed by counting the fraction of fluorescent positive beads through flow cytometry.

• Asian-Australasian Journal of Animal Sciences
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• 제16권2호
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• pp.161-164
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• 2003

The polymorphism of the growth hormone gene in 12 pig breeds (total n=475) was detected by PCR-Apa I-RFLP, and allele A (449 bp, 101 bp and 55 bp) or allele B (316 bp, 133 bp, 101 bp and 55 bp) were observed. In these pig breeds, we found that European pig breeds had high frequencies of allele B, while Chinese native pig breeds had high frequencies of allele A. In addition, the role of porcine GH was investigated in 117 Nanchang White pigs and 361 Large Yorkshire pigs. Eight traits about growth and carcass were recorded for analyzing associations between GH gene polymorphism and performance quantitative traits. In the Nanchang White pigs, no significant difference was observed between different genotypes and different growth and carcass traits. In Large Yorkshire pigs, those with BB genotype had more lean percentage than pigs with AA genotype (p<0.05). Based on these results, we conclude that the GH locus should be further investigated in commercial breeds to determine its suitability for use in marker-assisted selection programmes.

• Asian-Australasian Journal of Animal Sciences
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• 제20권1호
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• pp.7-11
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• 2007

The study was conducted on 162 adult male Haemonchus contortus of sheep collected from Avikanagar, Jaipur and Bikaner regions to diagnose the benzimidazole (BZ) resistance in H. contortus. The BZ resistance is primarily linked with the mutation in ${\beta}$-tubulin isotype 1 gene which substitute phenylalanine (Phe) into tyrosine (Tyr) at the 200 codon of the gene. An allele specific polymerase chain reaction (AS-PCR) technique was used for diagnosis of BZ resistance in H. contortus. In AS-PCR, one reverse primer (TGG 312) was used in two separate reactions with each of 2 forward primers (resistant TGG 331 and susceptible CAW 106 primer) that differed only at 3' nucleotide position. Therefore, the amplified products from resistant and susceptible parasites were produced 267 and 266 bp, respectively. A total of 162 parasites were genotyped, of which 130 parasites found homozygous resistant 'rr', 22 heterozygous 'rS' and 10 homozygous susceptible 'SS' type. The prevalence of 'rr' individuals was higher in Jaipur (98%) followed by Avikanagar (93%) and Bikaner (50%) regions. Overall, the prevalence of BZ resistant allele (r) was higher (87%) as compared to 13% of BZ susceptible allele (S).