An association between tyrosinase gene single nucleotide polymorphisms and melanin distribution in chicken

2005 ◽  
Vol 2 (3) ◽  
pp. 167-171
Author(s):  
Chen Zhi-Qiang ◽  
Deng Xue-Mei ◽  
Zhou Jun ◽  
Li Ning ◽  
Wu Chang-Xin
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Single Strand Conformation Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Melanin Biosynthesis ◽  
Tyrosinase Gene ◽  
Key Enzyme ◽  
Chi Square Test ◽  
Conformation Polymorphism

AbstractTyrosinase (TYR) is a key enzyme of melanin biosynthesis. Single-strand conformation polymorphism (SSCP) analysis was applied to detect the single nucleotide polymorphisms (SNPs) in the upstream regulating region from -641 to -2125 bp of the TYR gene. Three SNPs were found in this region. Correlations were obtained between genotypes of the SNP sites and pigment traits in chicken parental and F2 generations of the Chinese Agricultural University (CAU) resource population. The chi-square test indicated that these mutations were significantly related to shank and body skin colours.

Genetic association study of SOX2 gene polymorphisms with high myopia in a Chinese population

2020 ◽  
pp. 112067212090466
Author(s):  
Lan Li ◽  
Ying Juan Cui ◽  
Yunchun Zou ◽  
Liyuan Yang ◽  
Ximin Yin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
High Myopia ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Spherical Equivalent ◽  
Chi Square ◽  
Single Nucleotide ◽  
Sox2 Gene ◽  
Chi Square Test

Purpose: The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population. Methods: This study is conducted using case-control association analysis. This study recruited 83 healthy controls (with binocular spherical equivalent between –0.50 and +0.50 D) and 117 high myopia cases (spherical equivalent > –6.00 D in both eyes). Three single-nucleotide polymorphisms were selected from HapMap database for genotyping by direct sequencing. Statistical software (SPSS 22.0) was used for statistical analysis. The chi-square test was used to examine the difference in the frequency between cases and controls. Results: Genotype distributions in the three single-nucleotide polymorphisms were all in accordance with the Hardy–Weinberg equilibrium. The differences of rs4575941 locus genotype frequency and allele frequency between the case group and the control group were statistically significant (p = .043 and p = .029, respectively). The rs4575941 allele G frequency in the high myopia group was significantly higher than that in the control group with an odds ratio value of 1.579. However, the value of a chi-square test for the trend was 0.029, and after Bonferroni test, the p value was .087. Conclusion: In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575941 allele G might be a risk gene for high myopia.

scholarly journals DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

2018 ◽  
Vol 11 (1) ◽  
pp. 205
Author(s):  
Zahraa Isam ◽  
Rabab Omran Al-jelawi- ◽  
Ammad Hassan Mahmood
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Region ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Thick Ascending Limb ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Polymerase Chain ◽  
Conformation Polymorphism

  Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle’s loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region.

scholarly journals DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

2018 ◽  
Vol 11 (1) ◽  
pp. 205 ◽  
Author(s):  
Zahraa Isam ◽  
Rabab Omran Al-jelawi- ◽  
Ammad Hassan Mahmood
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Region ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Thick Ascending Limb ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Polymerase Chain ◽  
Conformation Polymorphism

  Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle’s loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region.

scholarly journals Study of Dental Caries and PTH Gene

2021 ◽  
Vol 2 ◽  
Author(s):  
Caio Luiz Bitencourt Reis ◽  
Mariane Carolina Faria Barbosa ◽  
Daniela Coelho de Lima ◽  
Isabela Ribeiro Madalena ◽  
Flares Baratto-Filho ◽  
...  
Keyword(s):  
Dental Caries ◽  
Single Nucleotide Polymorphisms ◽  
International System ◽  
Binary Logistic Regression ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Chi Square ◽  
Single Nucleotide ◽  
Chi Square Test ◽  
Brazilian Children

Parathyroid hormone (PTH) is essential for calcium and phosphate homeostasis in odontogenesis-related cells. Therefore, the present study aimed to investigate the association between single nucleotide polymorphisms in the gene encoding PTH, and dental caries in Brazilian children. Three hundred and fifty-three children (170 boys and 183 girls, age ranging from 8 to 11 years old) were included in this study. The International System for Detection and Assessment of Carious Lesions (ICDAS) was used for diagnosis of dental caries. Visible biofilm was also evaluated during the clinical examination. Genomic DNA was extracted from saliva for real-time PCR to evaluate the single nucleotide polymorphisms rs6256, rs307247 and rs694 in PTH gene. Dental caries was classified in ICDAS0 vs. ICDAS1−6 or ICDAS1−2 vs. ICDAS3−6. Chi-square test, binary logistic regression adjusted by biofilm and haplotype analyses were performed (p < 0.05). Biofilm was associated with dental caries (p < 0.05). There were no associations between dental caries and rs6256, rs307247, rs694 in none of the analyses performed (p > 0.05). In conclusion, the present study supports that the single nucleotide polymorphisms rs6256, rs307247, and rs694 in the PTH-encoding gene are not associated with dental caries in Brazilian children.

Promoter region single nucleotide polymorphism of siglec-8 gene associates with susceptibility to allergic asthma

2020 ◽  
Vol 17 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Mohammad Sajay-asbaghi ◽  
Mahnaz Sadeghi-shabestrai ◽  
Amir Monfaredan ◽  
Narges Seyfizadeh ◽  
Alireza Razavi ◽  
...  
Keyword(s):  
Allergic Asthma ◽  
Normal Subjects ◽  
Single Strand Conformation Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Potential Therapeutic Target ◽  
Single Nucleotide ◽  
Study Materials ◽  
Protective Allele ◽  
Conformation Polymorphism

Aim: Siglec-8 is exclusively expressed on mast cells, eosinophils and basophils. Possible association of six siglec-8 single nucleotide polymorphisms (SNPs) with susceptibility to allergic asthma in the Azeri population of Iran was investigated in this study. Materials & methods: A total of 194 patients and 190 normal subjects were enrolled. PCR single strand conformation polymorphism (PCR-SSCP) was used to determine the genotypes of the studied SNPs. Results: The rs36498 showed significant association with allergic asthma (odds ratio [OR]: 0.65; p = 0.022) and the T allele was found as a protective allele (OR: 0.61; p = 0.008). Also, eosinophil count in the CC genotype was significantly higher than that in the other genotypes (p = 0.026). Conclusion: The rs36498 is thought to influence the expression level of siglec-8. Siglec-8 could be a potential therapeutic target for allergic asthma.

ABCB1, CYP3A5*3, and CYP3A4*1B SNPs and risk of toxicity with sunitinib treatment for mRCC.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 485-485
Author(s):  
Maria Bassanelli ◽  
Alessandra Felici ◽  
Michele Milella ◽  
Diana Giannarelli ◽  
Silvana Giacinti ◽  
...  
Keyword(s):  
Nucleotide Polymorphisms ◽  
Test Results ◽  
Chi Square ◽  
Metabolizing Enzymes ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Hand Foot Syndrome ◽  
Chi Square Test ◽  
Grade 3 ◽  
The Individual

485 Background: Currently there are no biomarkers to predict either toxicity or activity of targeted therapy in mRCC. The aim of this study was to correlate single nucleotide polymorphisms (SNPs) of genes encoding for efflux transporters and metabolizing enzymes with sunitinib toxicity in metastatic renal cell carcinoma (mRCC) patients (pts). Methods: We conducted an observational, retrospective analysis of 60 Caucasian pts who received sunitinib for mRCC from 2 Italian institutions. Correlation between adverse events (AE, according to CTCAE v.4.0) and 4 polymorphisms in 3 genes (ABCB1 [1236C>T, 3435C>T], CYP3A5*3 6986A>G, CYP3A4*1B-392A>G) was analyzed. SNPs were detected in blood samples using pyrosequencing technique. Association between SNPs and toxicities was evaluated using the Chi Square test. Results: 60pts (median age: 61 years; male: 63.3%) with mRCC (clear cell: 85%, other histologies: 15%) were treated with sunitinib (83.3% as first-line). The most common AE (any-grade) reported were: hypertension (85%), asthenia (83.3%), hypothyroidism (65%), anemia (61.6%), nausea/vomiting (60%), stomatitis (58.3%), diarrhoea (48.3%), neutropenia (48.3%), thrombocytopenia (46.7%), leukopenia (46.7%), hypertriglyceridemia (45%), hyperglycaemia (38.4%), hypercholesterolemia (35%), and hand-foot syndrome (35%). Treatment was discontinued and sunitinib dose was reduced due to AE in 28.3% and 61.7% of pts, respectively. The G/A-variant in CYP3A5*3 was associated with thrombocytopenia (any grade, p=0.03); homozygous C/C alleles in ABCB1 1236C>T significantly correlated with leukopenia (any grade, p=0.01), while the C/C genotype in ABCB1 3435C>T was associated with hypertension (grade≥3, p=0.05); hypertriglyceridemia showed a trend towards increased prevalence in the presence of the C allele (grade≥3, p=0.08). Conclusions: Polymorphisms in ABCB1 and CYP3A5*3 are predictive of toxicity, as hypertension, leukopenia, and thrombocytopenia in pts with mRCC treated with sunitinib. This analysis could support the selection of the more appropriate drug to the individual patient.

New polymorphisms of PAPPA and PAPPA2 genes and their associations with egg production traits in Chinese Dagu chickens

2017 ◽  
Author(s):  
D. Liu ◽  
X. L. Niu ◽  
T. L. Tyasi ◽  
N. Qin ◽  
H. Zhu ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Egg Production ◽  
Protein A ◽  
Follicular Development ◽  
Single Strand Conformation Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Production Traits ◽  
Single Nucleotide ◽  
Egg Weight ◽  
Conformation Polymorphism

Pregnancy-associated plasma protein A, pappalysin1 (PAPPA) and pappalysin2 (PAPPA2) genes were implicated in regulation of hen ovarian follicular development and growth. Four novel single nucleotide polymorphisms (SNPs) were identified using PCR-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. Among them, A/G transition at position 172864 and T/C mutation at position 172952 in 3‘-untranslated region (UTR) of PAPPA named SNP A172864G and T172952C, respectively. A/G transition at position 77421 and T/C at position 77455 in 3‘-UTR of PAPPA2 gene named as SNP A77421G and T77455C, respectively. For SNP A172864G and T172952C (PAPPA), 360 Dagu hens were classified as AA, AB and BB genotypes based on PCR-SSCP patterns, and BB genotype correlated significantly (P less than 0.05) with higher hen-housed egg production (HHEP) at 30 and 57 weeks (wks) of age and higher egg weight (EW) at 43 wks of age. Consequently, these SNPs identified will be potential genetic markers to improve egg productivity in chicken breeding.

scholarly journals Haplotype Analysis of Norwegian and Swedish Patients with Acute Intermittent Porphyria (AIP): Extreme Haplotype Heterogeneity for the Mutation R116W

2003 ◽  
Vol 19 (1) ◽  
pp. 41-46 ◽  
Author(s):  
Kjersti Tjensvoll ◽  
Ove Bruland ◽  
Ylva Floderus ◽  
Øyvind Skadberg ◽  
Sverre Sandberg ◽  
...  
Keyword(s):  
Acute Intermittent Porphyria ◽  
Single Strand Conformation Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Cpg Dinucleotides ◽  
High Prevalence ◽  
Different Populations ◽  
Acute Porphyrias ◽  
Conformation Polymorphism

Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD). The mutation spectrum in the HMBS gene is characterized by a majority of family specific mutations. Among the exceptions are R116W and W198X, with high prevalence in both the Dutch and Swedish populations. These two mutations were also detected in unrelated Norwegian patients. Thus, Norwegian and Swedish patients were haplotyped using closely linked flanking microsatellites and intragenic single nucleotide polymorphisms (SNPs) to see if the high frequency of these two mutations is due to a founder effect. Twelve intragenic SNPs were determined by a method based on fluorescent restriction enzyme fingerprinting single-strand conformation polymorphism (F-REF-SSCP).W198X occurred exclusively on one haplotype in both Norwegian and Swedish patients, showing that it has originated from a common gene source. In contrast, R116W was found on three different haplotypes in three Norwegian families, and in five Swedish families on four or five haplotypes. This extreme haplotype heterogeneity indicates that R116W is a recurrent mutation, maybe explained by the high mutability of CpG dinucleotides. This can also explain why it is the only AIP mutation reported to occur in seven different populations (Norway, Sweden, Finland, Netherlands, France, Spain and South Africa).

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