scholarly journals Application of PCR-RFLP technique to determine Booroola gene polymorphism in the Sangsari sheep breed of Iran

2013 ◽  
Author(s):  
REZA JAMSHIDI
Keyword(s):  
Gene Polymorphism ◽  
Sheep Breed ◽  
Pcr Rflp

scholarly journals The efficacy of diuretics in complex treatment of patients with hypertension according to the Gly460Trp polymorphism of the α-adducin gene

2021 ◽  
Vol 23 (4) ◽  
pp. 503-508
Author(s):  
S. A. Yermolenko ◽  
V. F. Orlovskyi ◽  
O. V. Orlovskyi ◽  
A. V. Zharkova ◽  
I. O. Moiseienko ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Gene Polymorphism ◽  
Polymorphic Locus ◽  
Polymorphic Marker ◽  
Individual Treatment ◽  
Healthy Individuals ◽  
Group I ◽  
Allelic Distribution ◽  
Pcr Rflp ◽  
Polymerase Chain

The aim of the study was to investigate the effect of thiazide diuretics on blood pressure (BP) depending on Gly460Trp ADD1 gene polymorphism in arterial hypertension (AH) patients of the Ukrainian population in order to predict their individual treatment efficacy. Material and methods. The study included 232 persons: 120 patients with verified stage II AH and 112 healthy individuals. Restriction fragment length polymerase chain reaction (PCR-RFLP) was used to detect genotype (the Gly460Trp-polymorphic locus of the ADD1 gene). The patients received standard therapy, which included ACE inhibitor – ramipril 5 mg, calcium channel antagonist – amlodipine 5 mg, statin – atorvastatin 20 mg, acetylsalicylic acid 75 mg. The patients were randomized into two groups: group I (60 persons) additionally taking treatment with 1.5 mg of indapamide retard and group II (60 persons) – with 25 mg of hydrochlorothiazide. The dynamic reduction of blood pressure has been assessed every 4 weeks for 2 months. Results. Among 120 patients with AH, 91 persons (75.8 %) were homozygous for the G allele (GG), 26 persons (21.7 %) – heterozygous (GT) and 3 persons (2.5 %) – homozygous for the T allele (TT), while the G allele frequency in patients with hypertension was 0.87, and the T allele – 0.13. 98 healthy individuals (87.5 %) were homozygous for the G allele, 13 individuals (11.6 %) were heterozygous, and 1 person (0.9 %) was homozygous for the T allele. The carrier frequency of the G and T alleles was 0.93 and 0.07, respectively. Allelic distribution indicated the predominance of the G allele carriers by Gly460Trp polymorphism of the ADD1 gene among the Ukrainian population, regardless of whether AH symptoms were present. It is noteworthy that the number of the T allele carriers was 2 times large among symptomatic patients than that among healthy individuals. In patients with the T allele, the hypotensive efficacy of indapamide was almost 3 times higher than that in patients with the G allele. The antihypertensive effect of hydrochlorothiazide in patients with the GT and TT genotypes was 2 times greater than that in the GG genotype carriers depending on the presence of the T allele G460T polymorphism of ADD1 gene in the genotype. Conclusions. Allelic distribution indicates the predominance of the G allele carriers by Gly460Trp ADD1 gene polymorphism among the Ukrainian population, regardless of whether AH symptoms are present. Among patients with AH, the accumulation of the T allele G460T polymorphic marker of the α-adducin gene is 2 times more than that in healthy individuals. Patients carrying the T allele demonstrate 2 times higher hypotensive efficacy of indapamide compared with hydrochlorothiazide.

scholarly journals Polimorfisme V16A Gen MnSOD pada Penderita Diabetes Melitus Tipe 2 dengan Retinopati

2018 ◽  
Vol 3 (2) ◽  
pp. 37
Author(s):  
Tasmini Tasmini ◽  
R. Haryo Yudono ◽  
Maliyah Madyan
Keyword(s):  
Oxidative Stress ◽  
Diabetic Retinopathy ◽  
Gene Polymorphism ◽  
Proliferative Diabetic Retinopathy ◽  
Stress Hyperglycemia ◽  
Type 2 Dm ◽  
Pcr Rflp ◽  
Group 2 ◽  
Mnsod Gene

Complications of diabetes mellitus (DM) include diabetic retinopathy (RD) both non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR). The development of RD depends on environmental and genetic factors. MnSOD gene (manganese-superoxid dismutase) is one of the candidate risk factors gene for RD. The presence of V16A MnSOD gene polymorphism results in decrease of mitochondrial MnSOD enzymes expression and triggers the oxidative stress. Hyperglycemia in DM increases oxidative stress in tissues, including the retina resulting in metabolic abnormalities in the retina, which play a role in the development of DM complications, namely diabetic retinopathy. In Indonesia, especially the Javanese tribes in Yogyakarta, there has never been any research on MnSOD gene polymorphism in type 2 diabetes patients with and without retinopathy. Subjects were Poly Endocrine patients and Eye Polyclinic patients of Dr. Sardjito’s General Hospital, 121 subjects consisting of 63 type 2 DM patients without retinopathy were group 1 (KI) and 58 type 2 DM patients with retinopathy were group 2 (KII) (20 NPDR subjects and 38 PDR subjects). V16A polymorphism of MnSOD gene from leukocytes DNA was analyzed by PCR-RFLP method. From 121 DM subjects, 70 subjects with VV genotype were found, 50 subjects with VA genotype and 1 subject with AA genotype. From 63 non-RD DM subjects, 22 subjects with VA genotypes and 41 subjects with VV genotype were found, while in DM with retinopathy (non-PDR, n = 20) found 6 subjects with VA genotype and 14 subjects with VV genotype, and in DM with retinopathy (PDR, n = 38) found 1 subject with AA genotype, 22 subjects with VA genotype and 15 subjects with VV genotype. In DM with retinopathy (NPDR and PDR, n = 58), 1 subject was found with AA genotype, 27 subjects with VA genotype and 29 subjects with VV genotype.

scholarly journals Pengaruh Polimorfisme Gen Heat Shock Protein 70 (HSP70) SacII terhadap Toleransi Panas Itik Lokal Sumatera Barat

2019 ◽  
Vol 19 (2) ◽  
pp. 122-128
Author(s):  
Kusnadidi Subekti ◽  
Dedi Duryadi Solihin ◽  
Rudi Afnan ◽  
Asep Gunawan ◽  
Cece Sumanri
Keyword(s):  
Heat Shock ◽  
Gene Polymorphism ◽  
Heat Shock Protein ◽  
Heat Tolerance ◽  
Heat Shock Protein 70 ◽  
Sanger Sequencing ◽  
Polymorphism Analysis ◽  
Chi Square ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium

ABSTRAK. Tujuan dari penelitian ini adalah untuk mengidentifikasi pengaruh polimorfisme gen heat shock protein 70 (HSP70) terhadap sifat toleransi panas. Genotiping dilakukan pada 110 itik lokal dari 4 populasi itik Sumatera Barat (pitalah, bayang, kamang, dan payakumbuh). Enzim restriksi yang digunakan adalah SacII. Cekaman panas dilakukan selama 1 jam dengan sampel itik lokal sebanyak 24 ekor untuk menganalisa status hematologi. PCR-RFLP dan Sanger sequencing assay digunakan untuk mengidentifikasi polimorfisme. Analisis polimorfisme dilakukan dengan menggunakan Software MEGA 7 dan pengaruhnya dianalisis dengan ANOVA menggunakan software SAS 9.4. Produk amplifikasi yang dihasilkan yaitu 466 pasang basa. Lokus HSP70/SacII mengenali satu situs SNP (Single nucleotide Polymorphism) g.1702TC, menghasilkan dua alel (T dan C) dan tiga genotype (TT, TC, CC). Gen HSP70/SacII bersifat polimorfik pada semua populasi. Hasil penelitian menunjukkan bahwa alel T memiliki frekuensi yang lebih tinggi daripada alel C pada semua populasi. Analisis chi-kuadrat (χ2) menunjukkan bahwa semua populasi itik lokal memenuhi kaidah kesetimbangan Hardy-Weinberg. Pengaruh genotipe gen HSP70 terhadap status hematologi menunjukkan perbedaan (P0,05) terhadap nilai heterofil dan nilai H/L dengan genotipe CT menunjukkan toleransi panas yang lebih baik dibanding genotipe lainnya. Gen HSP70/SacII dapat dijadikan marka molekuler sifat toleransi panas pada itik lokal berdasarkan keragaman dan pengaruhnya terhadap status hematologi.  (The effect of heat shock protein 70 (HSP70) SacII gene polymorphism on heat tolerance of West Sumatera local duck) ABSTRACT. The objective of this study was to identify the effect of HSP70/SacII gene polymorphism associated with the thermotolerance trait. Genotyping was performed on 110 local duck from the West Sumatera ducks population (pitalah, bayang, kamang, and payakumbuh). The restriction enzyme used was SacII. Heat stress was done for 1 hour with samples used as much as 24 birds to analyze hematological status. PCR-RFLP and Sanger sequencing assays were used to identify polymorphism. Analysis of polymorphism was conduct by MEGA 7 software and its effect is analyzed with ANOVA using Statistical SAS 9.4 software. The product of amplification was 466 bp. HSP70/SacII recognized one SNP g.1702TC, producing two alleles (T and C) and three genotypes (TT,TC,CC). The HSP70/SacII locus were polymorphic in all population. T allele had a higher frequency than C allele in all populations. The analysis of chi-square (χ2) showed that all local ducks population were fit with Hardy-Weinberg equilibrium. The effect of HSP70/SacII gene on hematological status showed differences (P0,05) of heterophil and H/L ratio with CT genotype show better heat tolerance than other genotypes. HSP70/SacII gene can be used as a marker of heat tolerance in local ducks based on polymorphism and its effect on hematological status.

scholarly journals Association of growth hormone (GH) gene polymorphism with growth and carcass in Sumba Ongole (SO) cattle

2017 ◽  
Vol 42 (3) ◽  
pp. 153 ◽  
Author(s):  
P. P. Agung ◽  
S. Anwar ◽  
W. P. B. Putra ◽  
M. S. A. Zein ◽  
A. S. Wulandari ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Growth Parameters ◽  
Rflp Analysis ◽  
Cattle Breeding ◽  
Pcr Rflp ◽  
Gh Gene ◽  
Polymerase Chain ◽  
Dressing Percentage

A study was conducted to identify the polymorphism in the intron 3 of the Growth Hormone (GH) gene and also to evaluate the association of the GH gene polymorphism with growth parameters and dressing percentage in the Sumba Ongole (SO) cattle. A total of 267 individual DNA samples were used in the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. The SO cattle growth parameters data (n=44) including birth weight (BW), weaning weight at 205 days of age (WW205), yearling weight at 365 days of age (YW365) and also dressing percentage (DP) (n=122) were investigated in this study. There were three genotypes (AA, AB, and BB) of the GH gene based on the PCR-RFLP analysis with allele frequency was 0.87 and 0.13 for A allele and B allele respectively. The highest genotype frequency in the SO cattle is AA (0.76) and the lowest is BB (0.02). The Heterozygosity Observed (Ho) value in the SO cattle population is 0.23 and Polymorphism Information Content (PIC) value is 0.20. Therefore, the genetic diversity in the SO cattle based on the GH gene polymorphism is quite low. There is no association (P>0.05) in BW, WW205, YW365, and DP with genotypes of the GH gene. As the result, the GH gene in this study cannot be used as a genetic marker in the SO cattle breeding program.

The Interaction between KCNJ11 Gene Polymorphism and Refined Carbohydrates Intake on Obesity in Indonesian Adolescents

2020 ◽  
Vol 16 (2) ◽  
pp. 185-189
Author(s):  
Emy Huriyati ◽  
Harry Freitag Luglio ◽  
Ahmad H. Sadewa ◽  
Mohammad Juffrie
Keyword(s):  
Gene Polymorphism ◽  
Pancreatic Beta Cells ◽  
Fragment Length Polymorphism ◽  
Female Adolescents ◽  
High Intake ◽  
Kcnj11 Gene ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
Refined Carbohydrates

Background: Obesity has been associated with genetic and environmental factors. Although carbohydrate intake was previously shown to be associated with a high risk of obesity and insulin resistance, some studies reported that genetic factors also have a role in this association. KCNJ11 is a gene involved in protein K-ATP channels of pancreatic beta cells and previously associated with obesity. Objective: The objective of this study was to determine the interaction between KCNJ11 polymorphism with a high intake of refined carbohydrates in relation to the incidence of obesity in adolescents. Method: This was an observational study with a case-control design. The subjects of this study were male and female adolescents from 10 high schools in Yogyakarta. Dietary intake, body weight, and height were collected. KCNJ11 gene polymorphism was detected by polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) method. Result: There is a significant association between KCNJ11 polymorphism with a high intake of refined carbohydrates in the incidence of obesity in adolescents (OR = 2.35, p =0.036). Conclusion: There is a significant association between the KCNJ11 polymorphism with a high intake of refined carbohydrates in adolescent obesity.

Investigation of Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in type 2 diabetes mellitus

2007 ◽  
Vol 98 (07) ◽  
pp. 186-191 ◽  
Author(s):  
Béla Nagy ◽  
Éva Csongrádi ◽  
Harjit Pal Bhattoa ◽  
István Balogh ◽  
György Blaskó ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Gene Polymorphism ◽  
Diabetic Patients ◽  
Type 2 Dm ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Soluble P ◽  
Overweight Subjects ◽  
Contradictory Data

SummaryIncreased levels of soluble P-selectin (sP-selectin) have been shown in a number of different disorders, e.g. diabetes mellitus (DM) and cardiovascular disease (CVD). Several studies have attempted to demonstrate the association of the most intensively examined variant of P-selectin gene polymorphism (Thr715Pro) with sP-selectin levels in healthy subjects and in CVD, but contradictory data have been reported.To clarify the effect of Pro715 allele on the sP-selectin levels in type 2 DM, we analysed this polymorphism in diabetic patients and compared these data with sP-selectin levels. Type 2 DM patients (n=119), 48 BMImatched non diabetic individuals – consisting mostly of overweight subjects – and 57 healthy volunteers were included in the study.TheThr715Pro polymorphism was analysed by PCR-RFLP, while sP-selectin levels were measured by ELISA. Significantly elevated sP-selectin levels were found in both DM and in overweight subjects compared to healthy controls. We confirmed previous reports that in healthy Pro715 allele carriers lower sP-selectin levels could be measured; however, this difference was only significant in case of lean subjects. No significant difference was detected in sP-selectin level among DM and overweight individuals according to this genotype. However, significant difference was observed in sP-selectin levels in older DM patients compared to younger ones,but these levels were not accounted for by the Thr715Pro polymorphism.We suggest that in type 2 DM individuals, the significantly elevated sP-selectin levels are not due to the Thr715Pro P-selectin gene polymorphism.

Association of the growth hormone gene polymorphism with growth traits in Salsk sheep breed

2017 ◽  
Vol 150 ◽  
pp. 11-14 ◽  
Author(s):  
Ivan F. Gorlov ◽  
Yuri A. Kolosov ◽  
Nadezhda V. Shirokova ◽  
Lyubov V. Getmantseva ◽  
Marina I. Slozhenkina ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Gene Polymorphism ◽  
Growth Traits ◽  
Sheep Breed ◽  
Growth Hormone Gene

Study of ABCG2 Gene polymorphism in Sahiwal and Hariana Cattle byPstI/PCR-RFLP Assay

2016 ◽  
Vol 6 (3) ◽  
pp. 475 ◽  
Author(s):  
Anita Sharma ◽  
Madhu Tiwari ◽  
Satyendra Pal Singh ◽  
Deepak Sharma ◽  
Sumit Kumar ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Pcr Rflp ◽  
Rflp Assay ◽  
Abcg2 Gene
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