• 제목/요약/키워드: genotype distribution

검색결과 252건 처리시간 0.029초

GSTT1 Null Genotype Distribution in the Kumaun Region of Northern India

  • Bag, Arundhati;Upadhyay, Saloni;Jeena, Lalit M.;Pundir, Princi;Jyala, Narayan S.
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권1호
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    • pp.87-89
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    • 2013
  • Glutathione S-transferases (GSTs) constitute a multigene family of multifunctional phase II metabolic enzymes. GSTT1, an important member of this group has a wide range of substrates including carcinogens. Total homozygous deletion or null genotype resulting in total lack of enzyme activity exists in populations for this enzyme. Since the null genotype may contribute to lower detoxification of carcinogens, this genotype is expected to increase cancer risk. The frequency of the GSTT1 null genotype is known to vary significantly among populations. However, little is known about its distribution in the hilly Kumaun region of northern India. Therefore, in this study, we determined the prevalence of the GSTT1 null polymorphism in the Kumaun popilation by conducting duplex PCR in 365 voluntary healthy individuals. The GSTT1 null genotype was detected in 18.4% of the individuals. Since GSTs play significant role in xenobiotic metabolism, the present data on GSTT1 genotype distribution should contribute in understanding genetic association with cancer risk in this understudied population.

Human Papillomavirus Genotype Distribution among Thai Women with High-Grade Cervical Intraepithelial Lesions and Invasive Cervical Cancer: a Literature Review

  • Kietpeerakool, Chumnan;Kleebkaow, Pilaiwan;Srisomboon, Jatupol
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권13호
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    • pp.5153-5158
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    • 2015
  • Infection with high-risk human papillomavirus (HR-HPV) is an essential cause of cervical cancer. Because of substantial geographical variation in the HPV genotype distribution, data regarding HPV type-specific prevalence for a particular country are mandatory for providing baseline information to estimate effectiveness of currently implemented HPV-based cervical cancer prevention. Accordingly, this review was conducted to evaluate the HR-HPV genotype distribution among Thai women with precancerous cervical lesions i.e. cervical intraepithelial neoplasia grade 2-3 (CIN 2-3), adenocarcinoma in situ (AIS), and invasive cervical cancer by reviewing the available literature. The prevalence of HR-HPV infection among Thai women with CIN 2-3 ranged from 64.8% to 90.1% and the three most common genotypes were HPV 16 (38.5%), HPV 58 (20.0%), and HPV 18 (5.5%). There were high squamous cell carcinoma/CIN 2-3 prevalence ratios in women with CIN 2-3 infected with HPV 33 and HPV 58 (1.40 and 1.38, respectively), emphasizing the importance of these subtypes in the risk of progression to invasive cancer among Thai women. Data regarding the prevalence and genotype distribution of HR-HPV in Thai women with AIS remain unavailable. Interesting findings about the distribution of HPV genotype in cervical cancer among Thai women include: (1) a relatively high prevalence of HPV 52 and HPV 58 in invasive squamous cell carcinoma; (2) the prevalence of HPV 18-related adenocarcinoma is almost double thepreviously reported prevalence, and (3) 75% of neuroendocrine carcinomas are HPV18-positive when taking into account both single and multiple infections.

Genotype Distribution of the Mutations in the Coagulation Factor V Gene in the Korean Population: Absence of Its Association with Coronary Artery Disease

  • Hong, Seung-Ho
    • Animal cells and systems
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    • 제7권3호
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    • pp.255-259
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    • 2003
  • Mutations in the factor Ⅴ gene are major risk markers for venous thrombosis. Several factors for blood coagulation have been related with cardiovascular disease. Ⅰ investigated genotype distribution for three mutations (G1691 A, A2379G and G2391 A) of the factor Ⅴ gene in the Korean population. Genotype frequencies were examined by polymerase chain reaction in 135 patients with coronary artery disease (CAD) and 116 healthy subjects. For the G1691A mutation (factor Ⅴ

Genotype distribution and gene frequency of angiotensin I-converting enzyme in Korean population

  • Yang, Young-Mok;Park, Jong-Hwan;Moon, Eon-Soo
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.17-22
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    • 1997
  • The angiotensin converting enzyme (ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cardiovascular diseases. Deletion polymorphism in the ACE gene may be a risk factor for myocardial infarction. The insertion/deletion (I/D) polymorphism of the ACE detected by PCR analysis appears to be associated with hypertension in Koreans and its nucleotide was subcloned into T-vector and its nucleotide sequences were determined. We also examined an association between hypertension and genetic variance of ACE. We identified the angiotensin I-converting enzyme genotype in 127 hypertensive and 189 normotensive Korean subjects. The distribution of ACE genotype II, ID, DD were 39.2%, 40.2%, 20.6% respectively and the frequency for ACE alleles I and D were 0.593 and 0.407, respectively in all subjects. The frequency of D allele in Korean males is higher than that of Korean females (male; 0.438 : female; 0.267), and the frequency of I allele in Korean females is higher than that of Korean males (female; 0.733 : male; 0.562). Genotype distributions of angiotensin I-converting enzyme genes in Korean normal adult population were different from that of Caucasians (P<0.001). There were no significant differences in genotype frequency between the hypertensive control group (n=127) and the normotensive group (n=189). We observed significant differences of ACE genotype distribution between the male group and the female group in total (P=0.001) and in hypertensive Korean subjects (P=0.013).

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Distribution of HCV Genotypes in Chronic Korean HCV Patients

  • Lee, Kyung-Ok;Jeong, Su-Jin;Byun, Ji-Young;Shim, Ae-Sug;Seong, Hye-Soon;Kim, Kyung-Tae
    • 대한임상검사과학회지
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    • 제39권1호
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    • pp.49-55
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    • 2007
  • HCV는 single stranded RNA 바이러스로서 감염 시에는 만성간염 및 간경화 간암으로 진행될 수 있는 가능성이 높다. HCV는 6종의 주된 genotype과 그에 따른 많은 종류의 subtype이 보고되고 있으며, 세계 각 지역별로 그 분포는 매우 다양하다. 여러 가지 HCV genotype 중에서 1b 형에 감염되었을 경우 간경화나 간암으로 진행할 가능성이 높으며 치료효과도 떨어진다는 보고가 있어, 최근 HCV 환자의 치료에 있어서 HCV 바이러스 정량검사와 함께 HCV genotyping 검사의 임상적 활용이 높아지고 있다. 본 연구에서는 PCR-direct sequencing을 이용한 HCV genotyping 검사방법을 이용하여, 한국인 만성 HCV 간염환자에서 HCV genotype의 분포를 조사하였다. 검체로는 232명의 한국인 만성간염환자의 혈청을 사용하였으며, HCV 5'UTR 영역에서 선택한 2쌍의 primer로 nested PCR을 실시하였다. 증폭된 PCR산물 (215 bps)은 2% agrose gel로 전기영동을 하고 sequencing을 실시한 후 GeneBank의 BLAST 프로그램을 사용하여 HCV genotype을 분석하였다. HCV genotyping을 실시한 232명에서 5종류의 genotype, HCV 1b, 2a, 2b, 2c, 3a, 이 발견되었으며, HCV genotype 4, 5, 6 은 검출되지 않았다. 발견된 HCV genotype 중에서 HCV 1b의 검출률이 53.9%로 가장 높았고, 다음은 HCV 2a가 35.8%로 높게 나타나, 위 두 가지 HCV genotype을 합하면 거의 90%였다. 다음으로 HCV genotype 2b가 3.9%, 3a가 3.4% 그리고 2c가 3.0%의 순서로 검출되었다. 본 결과는 한국인 만성 HCV간염 환자의 치료 및 예후관리에 참고가 될 것으로 사료된다. 또한 PCR-direct sequencing을 이용한 HCV genotyping 검사는 간편하고 분명하게 결과를 판독할 수 있어 임상실험실에서 유용하게 사용될 수 있을 것으로 판단된다.

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Distributions of the GSTM1 and GSTT1 Null Genotypes Worldwide are Characterized by Latitudinal Clines

  • Saitou, Marie;Ishida, Takafumi
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권1호
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    • pp.355-361
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    • 2015
  • Background: Deletion types of genetic variants of glutathione S-transferase (GST) M1 and T1, the GSTM1 null and GSTT1 null which are risk factors for certain cancers, have been ubiquitously found in human populations but their worldwide distribution pattern is unclear. Materials and Methods: To perform a meta-analysis, a systematic search for the literature on GSTM1 and GSTT1 null genotypes was done to identify 63 reports for 81 human populations. Relationships between the GSTM1 and GSTT1 null genotype frequencies and the absolute latitude of 81 populations were tested by Spearman's rank correlation coefficient. Results: A significant positive correlation was detected between the GSTM1 null genotype frequency and the absolute latitude (r=0.28, p-value <0.05), whereas the GSTT1 null genotype frequency and absolute latitude showed a significant negative correlation (r= -0.41 p-value <0.01). There was no correlation between the frequencies of GSTM1 and GSTT1 null genotype in each population (r= -0.029, p-value=0.80). Conclusions: Latitudinal clines of the distribution of the GSTM1 and GSTT1 null genotypes may be attributed to the result of gene-environmental adaptation. No functional compensation between GSTM1 and GSTT1 was suggested by the lack of correlation between the null frequencies for GSTM1 and GSTT1.

Analysis of Hepatitis C Virus Genotypes and RNA Quantitative Values in Cheonan, Korea from 2007 to 2016

  • Bishguurmaa Renchindorj;Bo Kyeung Jung;Joowon Park
    • 한국미생물·생명공학회지
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    • 제50권3호
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    • pp.422-429
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    • 2022
  • The hepatitis C virus (HCV) genome contains a positive-sense single-stranded RNA molecule, and it is classified into 8 genotypes and 87 subtypes. Globally, over 350,000 people die from liver cirrhosis and hepatocellular carcinoma caused by HCV each year. Here, the genotype distribution of HCV was estimated in the population in Cheonan, Korea using Sanger sequencing. In addition, the correlation between HCV RNA level and genotype was assessed using real-time polymerase chain reaction (PCR); similarly, the correlation of HCV RNA level with isolation year (2007-2016) was determined using 463 consecutive serum samples obtained from patients at Dankook University Hospital, Cheonan, Korea. In 2007, genotype 1b (54.2%) was predominant, followed by genotypes 2a (41.7%), 1a (2.1%) and 3a (2.1%); whereas in 2016, the predominant genotype was 2a (49.0%), followed by genotypes 1b (46.9%), 3b (2%), and 4a (2%). Neither age nor sex was correlated with HCV genotype. Furthermore, the mean HCV RNA level decreased significantly from 2012 to 2016 (p < 0.05). However, no significant correlations between genotype and HCV RNA level were found. Overall, the findings revealed that genotypes 2a and 1b were the most common in Cheonan, and the prevalence of HCV genotype 1b tended to decrease over the past decade.

Epidemiology of Hepatitis C Virus Genotypes in Northeastern Thai Blood Samples

  • Barusrux, Sahapat;Sengthong, Chatchawan;Urwijitaroon, Yupa
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권20호
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    • pp.8837-8842
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    • 2014
  • Background: Hepatitis C virus (HCV) infection is an important cause of liver cancer in Thailand. The highest prevalence of anti-HCV positive among Thai blood donors is found in the northeastern region. The present analysis of the genotype distribution among anti-HCV positive northeastern-Thai blood donors was conducted to provide a base for the epidemiological pattern of HCV infection in this region. Materials and Methods: A total of 112 HCV seropositive healthy blood donors were randomly selected and tested for the presence of HCV-RNA by RT-PCR. HCV-RNA positive samples were genotyped by direct sequencing at core region genomes and confirmed by phylogenetic analysis. Results: HCV viremia was found in 94.6% (106/112) of HCV seropositive blood donors. There were 3 major genotypes distributed among this population. HCV genotype 3a was the most prevalent (71.7%) followed by genotypes 1a (7.5%), 1b (7.5%), 6i (3.8%), 6f (2.8%) and 6n (1.9%). Conclusions: HCV genotype 3a in asymptomatic infections in northeastern Thailand is significantly higher than other previous reports. Subgenotype 6 prevalence is less than in neighboring countries and distribution patterns differ. The findings are relevant as predictors for using interferon therapy in this population.

Peroxisome Proliferator-Activated $Receptor-{\gamma}$ 2 $(PPAR{\gamma}2)$ Pro12Ala (P12A) 유전자 다형성이 한국여성의 체지방분포에 미치는 영향 (Effects of Peroxisome Proliferator-Activated $Receptor-{\gamma}2$ Pro12Ala Polymorphism on Body Fat Distribution in Female Korean Subjects)

  • 김길수;최선미;양현성;윤유식;신승우
    • 한방비만학회지
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    • 제4권1호
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    • pp.1-11
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    • 2004
  • Objectives: The effects of peroxisome proliferator-activated receptor ${\gamma}2\;(PPAR{\gamma}2)$ Pro12Ala (P12A) polymorphism on body mass index (BMI) and type 2 diabetes are well documented; however, until now, only a few studies have evaluated the effects of this polymorphism on body fat distribution. This study was conducted to elucidate the effects of this polymorphism on computed tomography (CT)-measured body fat distribution and other obesity-related parameters in Korean female subjects. Methods & Results: The frequencies of $PPAR{\gamma}2$ genotypes were: PP type, 93.0%; PA type, 6.8%; and AA type, 0.2%. The frequency of the A allele was 0.035. Body weight (P .012), BMI (P .012), and waist-to-hip ratio (WHR) (P .001) were significantly higher in subjects with PA/AA compared with subjects with PP. When body composition was analyzed by bioimpedance analysis, lean body mass and body water content were similar between the 2 groups. However, body fat mass (P .003) and body fat percent (P .025) were significantly higher in subjects with PA/AA compared with subjects with PP. Among overweight subjects with BMI of greater than 25, PA/AA was associated with significantly higher abdominal subcutaneous fat (P .000), abdominal visceral fat (P .031), and subcutaneous upper and lower thigh adipose tissue (P .010 and .013). However, among lean subjects with BMI of less than 25, no significant differences associated with $PPAR{\gamma}2$ genotype were found, suggesting that the fat-accumulating effects of the PA/AA genotype were evident only among overweight subjects, but not among lean subjects. When serum lipid profiles, glucose, and liver function indicators were compared among overweight subjects, no significant difference associated with $PPAR{\gamma}2$ genotype was found. Changes in body weight, BMI, WHR, and body fat mass were measured among overweight subjects who finished a 1-month weight lose program of a hypocaloric diet and exercise; no significant differences associated with $PPAR{\gamma}2$ genotype were found. Conclusions: The results of this study suggest that the $PPAR{\gamma}2$ PA/AA genotype is associated with increased subcutaneous and visceral fat areas in overweight Korean female subjects, but does not significantly affect serum biochemical parameters and outcomes of weight loss programs.

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우라나라 감자 역병균 A2 교배형 및 Metalaxyl 저항성균의 빈도 및 분포의 변화 (Changes in Frequencies and Distribution of A2 Mating Type and Metalaxyl-Resistant Isolates of Phytophthora infestans in Korea)

  • 고영진;정희정
    • 한국식물병리학회지
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    • 제10권2호
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    • pp.92-98
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    • 1994
  • Phytophthora infestans populations collected from various geographical locations of Korea in 1991 and 1993 were analyzed for mating types and responses to metalaxyl. Both A1 and A2 mating type isolates were detected in 1991. The majority of the isolates were A2 mating type, but no A1 mating type was detected in 1993. About 40% of the isolates collected in 1991 were resistant to metalaxyl, and the distribution of metalaxyl-resistant isolates of P. infestans was strongly associated with their geographic origins in Korea. Metalaxyl-resistant isolates with EC50 values > 50$\mu\textrm{g}$/ml were collected from the northern provinces of Kangwon, Kyungbuk, and Chonbuk, but not from the southern provinces of Kyungnam, Chonnam, and Jeju in 1991. The drastic increase in the degree of quantitative resistance to metalaxyl was detected among the isolates from the southern provinces during 1991~1993. More than 50% of the isolates collected from the southern provinces of Kyungnam and Chonnam in 1993 had EC50 values >50$\mu\textrm{g}$/ml. The province of Kangwon had isolates with the greatest resistance to metalaxyl. this alpine areas might be the origin of metalaxyl-resistant isolates of P. infestans in Korea. The A2 genotype with metalaxyl resistance appears to be displacing the A1 genotype which is presently the predominant genotype in Korea.

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