• Title/Summary/Keyword: genotype test

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Prevalence and Genotype Distribution of Human Papillomavirus Infections in Women Attending Hospitals in Chaozhou of Guangdong Province

  • Chen, Qiang;Luo, Zhao-Yun;Lin, Min;Lin, Qi-Li;Chen, Chan-Yu;Yang, Chun;Xie, Long-Xu;Li, Hui;Zheng, Jia-Kun;Yang, Li-Ye;Ju, Gui-Zhi
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.4
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    • pp.1519-1524
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    • 2012
  • Background: Human papillomavirus (HPV) infection is the main cause of cervical cancer. Limited epidemiologic data of HPV prevalence are available for women attending hospitals in southern China. This study aimed to evaluate the profiles of HPV infection and cytology status in gynecological outpatients in Chaozhou City. Methods: A total of 2833 eligible women were enrolled. The HPV GenoArray test was used for HPV detection and genotyping. Nearly one half of the HPV positive women received liquid-based cytology test. Logistic regression analysis was performed to assess the predictable effects of age and genotype for categories of abnormal cytology. Results: The prevalence of overall, high-risk, and low-risk HPV infection were 24.5%, 19.5% and 8.4%, respectively. A U-shaped age-specific prevalence curve was observed in overall HPV and high-risk HPV, but not in low-risk HPV, which declined with age increasing. The 6 most common high-risk HPV type in descending order, were types 52, 16, 58, 18, 68, and 33. Age and HPV genotype were both important determinants of abnormal cytology incidence, the older women (>45 years) and those infected with HPV type 16 and/or 18 having the highest risk for abnormal cytology. Conclusion: Our findings support the hypothesis that second-generation HPV prophylactic vaccines including HPV-52 and -58 may offer higher protection for women residing in Chaozhou and neighboring cities in Guangdong.

Identification of a Novel Single Nucleotide Polymorphism in Porcine Beta-Defensin-1 Gene

  • Pruthviraj, D.R.;Usha, A.P.;Venkatachalapathy, R.T.
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.3
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    • pp.315-320
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    • 2016
  • Porcine beta-defensin-1 (PBD-1) gene plays an important role in the innate immunity of pigs. The peptide encoded by this gene is an antimicrobial peptide that has direct activity against a wide range of microbes. This peptide is involved in the co-creation of an antimicrobial barrier in the oral cavity of pigs. The objective of the present study was to detect polymorphisms, if any, in exon-1 and exon-2 regions of PBD-1 gene in Large White Yorkshire (LWY) and native Ankamali pigs of Kerala, India. Blood samples were collected from 100 pigs and genomic DNA was isolated using phenol chloroform method. The quantity of DNA was assessed in a spectrophotometer and quality by gel electrophoresis. Exon-1 and exon-2 regions of PBD-1 gene were amplified by polymerase chain reaction (PCR) and the products were subjected to single strand conformation polymorphism (SSCP) analysis. Subsequent silver staining of the polyacrylamide gels revealed three unique SSCP banding patterns in each of the two exons. The presence of single nucleotide polymorphisms (SNPs) was confirmed by nucleotide sequencing of the PCR products. A novel SNP was found in the 5'-UTR region of exon-1 and a SNP was detected in the mature peptide coding region of exon-2. In exon-1, the pooled population frequencies of GG, GT, and TT genotypes were 0.67, 0.30, and 0.03, respectively. GG genotype was predominant in both the breeds whereas TT genotype was not detected in LWY breed. Similarly, in exon-2, the pooled population frequencies of AA, AG, and GG genotypes were 0.50, 0.27, and 0.23, respectively. AA genotype was predominant in LWY pigs whereas GG genotype was predominant in native pigs. These results suggest that there exists a considerable genetic variation at PBD-1 locus and further association studies may help in development of a PCR based genotyping test to select pigs with better immunity.

Phenotype Based on Pharmacokinetic/Pharmacodynamic Parameters and Genotype Correlations of Immunosupressants (면역억제제의 약물속도론적/약력학적 파라미터에 기초한 표현형과 유전형의 상관성)

  • Lee, Yong-Bok;Cho, Hea-Young
    • Journal of Pharmaceutical Investigation
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    • v.37 no.6
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    • pp.369-376
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    • 2007
  • Cyclosporine (CsA) and tacrolimus (FK506) have a narrow therapeutic range, and their pharmacokinetic (PK) characteristic varies among individual. They are also substrates for cytochrome P450 (CYP) 3A4, 3A5 genes, and P-glycoprotein, the product of the multidrug resistance 1 (MDR1). The aims were to investigate the relationship between CYP3A and MDR1 genotypes and their PK parameters among healthy subjects. We investigated the genotype for CYP3A and MDR1 gene in human using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. After oral administration of CsA and FK506 (100 mg and 1 mg, respectively), whole blood samples were taken up to 24 hours. Blood CsA and FK506 concentrations were measured by LC/MS/MS. Each PK parameters were compared using Kruskal-Wallis test according to the CYP3A and MDR1 genotype. We found that the values of AVC for CsA were significantly different among CYP3A5 and MDR1 exon 26 (C3435T) genotypes (P=0.037 and P=0.049). On the other hand, the AUC for FK506 was significantly different only among CYP3A5 genotypes (P=0.013). The results clearly demonstrate the effects of CYP3A5 and MDR1 exon 26 on Cys and FK506 disposition.

The association of genetic polymorphism between responder and nonresponder to acupuncture in smoking cessation (금연침에 대한 반응군과 비반응군의 유전자 다형성 차이 연구)

  • Youhn, Dong-Hak;Park, Hi-Joon;Kim, Seung-Tae;Jin, Soo-Hee;Lee, Su-Jin;Lee, Hye-Jung;Lim, Sa-Bi-Na
    • Korean Journal of Acupuncture
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    • v.21 no.1
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    • pp.41-50
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    • 2004
  • Objectives : This study was designed to investigate the differences of effects in smoking cessation after acupuncture treatment and we hypothesized that the discrepancies might be caused by individual genetic differences. Methods : Acupuncture treatment was given to the subjects three times a week for the 231 healthy male Korean smokers without personal or familial history of psychiatric or neurological illness. We evaluated for differentiate responder and non-responder who showed more than 50% decrease in the cigarette consumption or the desire for smoking were regarded as responder, and less than 25% decrease in the cigarette consumption or the desire for smoking were regarded as non-responder, respectively. Allele and genotype frequencies of the Taq1 A polymorphism of dopamine D2 receptor (DRD2) gene were compared in 231male smokers. Chai-square analyses were performed to test for an interactive effect between the DRD2 Taq1 A allele. Results : The allele frequencies and genotype distributions of DRD2 gene among the smokers (n = 231) showed significant the differences in their genotype distributions. The responder and non-responder showed the difference in genotype distribution with a prevalence of A1 allele. A slightly positive association of DRD2 Taq1 A1 genotypes with smoking was observed. Conclusions : This experiment results indicate that the present of DRD2 allele genotype showing significant difference in the genotype distributions between responders and non-responders could be explained by the difference in the genetic effect of DRD2 A1 allele.

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Association analysis of polymorphisms of G protein-coupled receptor 54 gene exons with reproductive traits in Jiaxing Black sows

  • Wu, Fen;Zhang, Wei;Song, Qian-Qian;Li, Hai-Hong;Xu, Ming-Shu;Liu, Guo-Liang;Zhang, Jin-Zhi
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.8
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    • pp.1104-1111
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    • 2019
  • Objective: The aim of this study was to detect single nucleotide polymorphisms (SNP) of G protein-coupled receptor 54 (GPR54) gene and explore association of this candidate gene with reproductive traits in Jiaxing Black sows. Methods: Six pairs of primers of the gene were designed to amplify all exons thus sequences of which were detected by means of direct sequencing and then SNP loci were scanned. The effects of SNPs on total number of piglets born (TNB), number of piglets born alive (NBA), number of still born piglets (NSB), and litter weight at birth (LWB) of Jiaxing Black sows were analyzed. Results: Three SNP loci, including T3739C, C3878T and T6789C, were identified via comparison of sequencing and two genotypes (AB, BB) at each SNP site were observed. T3739C resulted in the change of amino acid ($Leu{\rightarrow}Pro$) in corresponding protein, and C3878T resulted in synonymous mutation ($Ile{\rightarrow}Ile$). Statistical results demonstrated that allele B was the preponderant allele at the three SNP loci and Genotype BB was the preponderant genotype. Meanwhile, Chi-Square test of these three SNPs indicated that all mutation sites fitted in Hardy-Weinberg equilibrium (p>0.05). For GPR54-T3739C locus, Jiaxing Black sows with genotype BB had 1.23 TNB and 1.28 NBA (p<0.01) that were more than those with genotype AB, respectively. Jiaxing Black sows that had the first two parities with genotype BB had additional 2.23 TNB, 2.27 NBA (p<0.01), and 1.94 LWB (p<0.05) compared to those with genotype AB, respectively. However, for other two loci, no significant difference was found between TNB, NBA, NSB, and LWB, and different genotypes of Jiaxing Black sows. Conclusion: In conclusion, the polymorphisms of GPR54-T3739C locus were significantly associated to TNB, NBA, and LWB and could be used as a potential genetic marker to improve reproductive function of Jiaxing black sows.

Association between I/D Polymorphism of Human LRPAP1 Gene and Body Mass Index in Korean General Population

  • Kang, Byung-Yong;Bae, Hak-Gyoon;Jhin, Hae-Kyung;Lee, Kyung-Soon;Lee, Kang-Oh
    • Toxicological Research
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    • v.19 no.3
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    • pp.205-210
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    • 2003
  • The aim of this study was to estimate the influence of 37 bp insertion/deletion (I/O) poly-morphism of the low density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene on anthropometrical or biochemical parameters in korean general population. To determine the frequency of the genotype, we analyzed 244 samples of Korean origin. The frequency of the I allele was 0.55 in men and 0.56 in women, which were significantly higher than the frequency (0.26) that was reported in Czech population of Caucasian origin. In addition, the I allele of this polymorphism was significantly associated with higher value of body mass index (BMI) in our subjects by ANOVA test (P<0.05), and this association was maintained after controlling for age and gender by ANCOVA test (P<0.05). Thus, our results suggest that the I/O polymorphism of the LRPAP1 gene may be useful as a genetic marker for obesity in Korean general population.

Sulforaphane and Total Phenolics Contents and Antioxidant Activity of Radish according to Genotype and Cultivation Location with Different Altitudes (재배지 고도에 따른 무 품종별 설포라판, 총페놀함량 및 항산화 특성)

  • Im, Ju-Sung;Lee, Eung-Ho;Lee, Jong-Nam;Kim, Ki-Deog;Kim, Hwa-Yeong;Kim, Myung-Jun
    • Horticultural Science & Technology
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    • v.28 no.3
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    • pp.335-342
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    • 2010
  • Sulforaphane (SFN) and total phenolics (TPC) contents and antioxidant activity (AA) were analyzed from 13 radish genotypes (Rhaphanus sativus L.), cultivated at 3 locations with different altitudes (Gangneung: asl 5 m, Jinbu: asl 550 m, and Daegwallyeong: asl 750 m). SFN varied greatly from 0.1 to $120.5{\mu}g{\cdot}g^{-1}$ in dry weight test and was significantly affected by location ($P{\leq}0.001$), genotype ($P{\leq}0.001$) and $location{\times}genotype$ interaction ($P{\leq}0.01$). Radishes, cultivated at Daegwallyeong site, showed higher SFN than those of other locations. Among different genotypes, the root of 'Black radish' and leaves of 'Purunmu' of Daegwallyeong had the highest SFN (107.8 and $120.5{\mu}g{\cdot}g^{-1}$, respectively). TPC in root was affected by genotype ($P{\leq}0.001$), and $location{\times}genotype$ interaction ($P{\leq}0.01$), but not by location. In leaves, TPC was affected by location ($P{\leq}0.01$), genotype ($P{\leq}0.001$), and $location{\times}genotype$ interaction ($P{\leq}0.001$). AA expressed as electron donating ability was significantly influenced by location, genotype and $location{\times}genotype$ interaction and correlated positively with TPC ($Pearson's$ $r$=0.897) in root. These results suggest that radish could be a good source of functional food and high altitude location such as Daegwallyeong has potential for the production of radish with high content of health promoting factors.

Null Allele in the D18S51 Locus Responsible for False Homozygosities and Discrepancies in Forensic STR Analysis

  • Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.17 no.2
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    • pp.151-155
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    • 2011
  • Short tandem repeats (STRs) loci are the genetic markers used for forensic human identity test. With multiplex polymerase chain reaction (PCR) assays, STRs are examined and measured PCR product length relative to sequenced allelic ladders. In the repeat region and the flanking region of the commonly-used STR may have DNA sequence variation. A mismatch due to sequence variation in the DNA template may cause allele drop-out (i.e., a "null" or "silent" allele) when it falls within PCR primer binding sites. The STR markers were co-amplified in a single reaction by using commercial PowerPlex$^{(R)}$ 16 system and AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI PRISM$^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The GeneMapper$^{TM}$ ID software were used for size calling and analysis of STR profiles. Here, this study described a forensic human identity test in which allelic drop-out occurred in the STR system D18S51. During the course of human identity test, two samples with a homozygous (16, 16 and 21, 21) genotype at D18S51 locus were discovered using the PowerPlex$^{(R)}$ 16 system. The loss of alleles was confirmed when the samples were amplified using AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kit and resulted in a heterozygous (16, 20 and 20, 21) genotype at this locus each other. This discrepancy results suggest that appropriate measures should be taken for database comparisons and that allele should be further investigated by sequence analysis and be reported to the forensic community.

Prevalence of Porphyromonas gingivalis fimA genotypes in peri-implant sulcus of Koreans using new primer

  • Kim, Sung-Geun;Hong, Ji-Youn;Shin, Seung-Il;Moon, Ji-Hoi;Lee, Jin-Yong;Herr, Yeek
    • Journal of Periodontal and Implant Science
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    • v.46 no.1
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    • pp.35-45
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    • 2016
  • Purpose: Porphyromonas gingivalis fimA is a virulence factor associated with periodontal diseases, but its role in the pathogenesis of peri-implantitis remains unclear. We aimed to evaluate the relationship between the condition of peri-implant tissue and the distribution of P. gingivalis fimA genotypes in Koreans using a new primer. Methods: A total of 248 plaque samples were taken from the peri-implant sulci of 184 subjects. The control group consisted of sound implants with a peri-implant probing depth (PD) of 5 mm or less with no bleeding on probing (BOP). Test group I consisted of implants with a peri-implant PD of 5 mm or less and BOP, and test group II consisted of implants with a peri-implant PD of more than 5 mm and BOP. DNA was extracted from each sample and analyzed a using a polymerase chain reaction (PCR) with P. gingivalis -specific primers, followed by an additional PCR assay to differentiate the fimA genotypes in P. gingivalis-positive subjects. Results: The Prevalence of P. gingivalis in each group did not significantly differ (P>0.05). The most predominant fimA genotype in all groups was type II. The prevalence of type Ib fimA was significantly greater in test group II than in the control group (P<0.05). Conclusions: The fimA type Ib genotype of P. gingivalis was found to play a critical role in the destruction of peri-implant tissue, suggesting that it may be a distinct risk factor for periimplantitis.

Analysis of HR-HPV Prevalence among Unvaccinated Busan Women

  • Dong Hyeok Kim;Kyung Eun Lee
    • Biomedical Science Letters
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    • v.28 no.4
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    • pp.229-236
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    • 2022
  • To prevent cervical cancer, human papillomavirus (HPV) bivalent and quadrivalent vaccinations are common, but there is a need for a vaccination system based on the high-risk human papillomavirus (HR-HPV) genotype that differs by region. This study aimed to investigate the prevalence of HPV and the distribution of HR-HPV genotypes in 2,014 women who were not vaccinated against HPV. In this study, HPV DNA testing was performed on 2,014 women not vaccinated against HPV and who visited the Busan Obstetrics and Gynecology Department from September 2020 to July 2021. In addition, liquid-based cytology (LBC) test was performed on 493 cases of HR- HPV genotype infection confirmed by HPV DNA test. The prevalence of HPV among women in Busan was positive in 609 (30.2%) out of 2,014 cases. Among the 609 HPV-positive cases, HR-HPV infection accounted for 493 cases (81.0%), which is a high proportion. Of the total 493 HR-HPV infection cases, liquid-based cytology (LBC) was within normal limits (WNL) in 266 cases (54.0%), atypical squamous cells of undetermined significance (ASCUS) in 97 cases (19.7%), low-grade squamous intraepithelial lesion (LGSIL) in 88 cases (17.8%), and high-grade squamous intraepithelial lesion (HGSIL) in 42 cases (8.5%). Single HR-HPV 52 and 16 accounted for the highest and second highest infection rates, respectively. The high infection rate among women aged 18~39 underscores the need for continuous monitoring. In addition, when there were abnormal findings in the cervical epithelium, HPV 52 was the most common, while in the case of HGSIL, HPV 16 was the most common. The HR-HPV genotypes related to cervical cancer should be continuously collected and monitored for use in health policies, including local and national vaccinations.