scholarly journals Frequency of ADH1B RsaI (rs2066701) single nucleotide polymorphism in a population of Bosnia and Herzegovina

2018 ◽  
Vol 2 (2) ◽  
pp. 28
Author(s):  
Amar Pecikoza ◽  
Lejla Lasic ◽  
Gabrijela Radosavljević ◽  
Anesa Ahatović ◽  
Ajla Smajlović ◽  
...  

Apart from its physiological role in the cellular oxidation of ethanol interesting feature of the ADH1B gene locus is its characteristic geographical distribution in which certain variants of ADH1B peak in different parts of the world.  Therefore, ADH1B rs2066701 polymorphism is exploited as a genetic marker in tracing of the evolutionary processes and human migrations in the past. Taking into consideration the complexity of population genetic structure and several migrations in the history of the Balkan populations, including Bosnian and Herzegovinian, this study aimed to estimate the frequency of ADH1B rs2066701 polymorphism in the population of Bosnia and Herzegovina. The total of 101 randomly sampled individuals was genotyped for rs2066701 polymorphism in ADH1B gene using PCR-RFLP method. The obtained frequencies were used to calculate heterozygosity, fixation indices and Hardy-Weinberg equilibrium. Observed population-structure parameters were compared with other population values available in ALFRED database. Dimensional relations between the investigated populations were visualised with the NM-MDS (non metric multidimensional scaling) analysis using PAST. The minor allele frequency for rs2066701 was 0,257. Inter-population analysis including other European and non-European populations from the ALFRED database proved the above-mentioned European genetic background of the B&H population.

2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Ali Aydin ◽  
Hatice Pinarbasi ◽  
Mustafa Gurelik

mEH is a critical biotransformation enzyme that catalyzes the conversion of xenobiotic epoxide substrates into more polar diol metabolites: it is also capable of inactivating a large number of structurally different molecules. Two polymorphisms affecting enzyme activity have been described in the exon 3 and 4 of the mEH gene. The hypothesis of this study is that inherent genetic susceptibility to a primary brain tumor is associated with mEH gene polymorphisms. The polymorphisms of the mEH gene were determined with PCR-RFLP techniques and 255 Turkish individuals. Our results indicate that the frequency of the mEH exon 4 polymorphism (in controls) is significantly higher than that of primary brain tumor patients (OR = 1.8, 95% CI = 1.0–3.4). This report, however, failed to demonstrate a significant association between mEH exon 3 polymorphism and primary brain tumor susceptibility in this population. Analysis of patients by both histological types of primary brain tumor and gene variants showed no association, although analysis of family history of cancer between cases and controls showed a statistically significant association (χ2=7.0, P=0.01). Our results marginally support the hypothesis that genetic susceptibility to brain tumors may be associated with mEPHX gene polymorphisms.


1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.


Author(s):  
Mahan Narjabadifam ◽  
Morteza Bonyadi ◽  
Seyed Abbas Rafat ◽  
Reza Mahdavi ◽  
Fereshteh Aliasghari

BACKGROUND: Obesity, as a medical condition, results from interactions between environmental and genetic factors. The rs17782313 polymorphism, located 188kb downstream of the Melanocortin 4 Receptor (MC4R) gene, is one of the essential candidate genetic markers that has shown the highest association with obesity in different populations. OBJECTIVE: This study aimed to investigate the possible associations of rs17782313 polymorphism near the MC4R gene with obesity/overweight, body mass index (BMI), and hedonic hunger among women from the Iranian Azeri ethnic group. METHODS: Five hundred sixty-three women, composed of 396 patients with obesity/overweight and 167 unrelated healthy controls, were genotyped for the rs17782313 polymorphism by applying the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. RESULTS: This population was in Hardy-Weinberg equilibrium (P = 0.878). The study confirmed a significant association of rs17782313 with obesity, where subjects carrying the C/C genotype had higher odds of obesity (OR = 2.681, P = 0.005, 95%CI:1.340–5.365). Also, C allele carriers have statistically significantly higher BMI scores than those carrying the T allele (P = 0.029). However, no significant associations were found among PFS scores and genotypic/allelic groups of rs17782313 polymorphism (P = 0.368). CONCLUSIONS: Our findings suggest that rs17782313 polymorphism is strongly associated with obesity and BMI but not with hedonic hunger among Northwest Iran women. Moreover, the sequencing data analysis in several homozygous and heterozygous carriers of the C allele led to identifying a novel frameshift variant with TCT deletion (rs534212081) in the 166 upstream of rs17782313, which has not been reported so far.


2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
A. Marantidis ◽  
G. P. Laliotis ◽  
M. Avdi

PCR-RFLP was applied to a commercial crossbred pig population in order to investigate the association between polymorphism (SNP) of Retinol-binding protein 4 (RBP4) gene and reproductive performance. 400 sows were genotyped and 2000 records of reproductive traits were used in order to retrieve information about the allele frequencies and the association of the RBP4 gene with main reproductive characteristics of the population. A deviation from the Hardy-Weinberg equilibrium was observed as a result of the AB genotype excess. In addition, the AA genotype saw statistically significant higher values of (i) the total number of born piglets (p<0.05), (ii) the number of piglets born alive (p<0.01), and (iii) the number of weaned piglets (p<0.01). The number of the mummified piglets and the number of the piglets born dead did not differ between the various RBP4 genotypes. Interestingly, the AA genotype had a negative impact (p<0.05) on the number of piglets born dead, resulting indirectly in a larger litter size. In conclusion, the AA genotype and in extension the A allele of RBP4 gene are in favor of producing larger litter size, suggesting that the RBP4 gene may be used in Marker-Assisted Selection (MAS) programs for a rapid improvement of the reproductive characteristics in pigs.


2021 ◽  
pp. 310-328
Author(s):  
Sergej A. Borisov

The article provides an overview of a field study conducted among Czechs in Serbia, Romania, Bosnia and Herzegovina in 2019. The first results are presented, samples of transcribed texts are given. The purpose of the expedition was to collect narratives for the proper linguistic study of contact elements, conversations were conducted, among other things, about the history of the resettlement of Czechs to the Balkans, about folk culture, and interaction with other Slavic and non-Slavic ethnic groups. In the three regions studied, the Czech language remains unevenly due to a number of linguistic and extralinguistic factors. There are very few Czechs left in Bosnia and Herzegovina; Czech is the mother tongue only for elder people living in rural areas. In Serbia, there are several schools where Czech language and culture are taught, and in Romania there are schools where in the primary grades all subjects are taught in Czech. The collected language data is a valuable source for studying local Czech dialects and contact phenomena (borrowings, code-switching). The metalinguistic comments used by informants when they have difficulties in their Czech language during a conversation with a researcher are of particular interest to sociolinguistics.


2019 ◽  
Vol 6 (2) ◽  
pp. 232
Author(s):  
Sutikno Sutikno ◽  
Rudy Priyanto ◽  
Cece Sumantri ◽  
Jakaria Jakaria

ABSTRAK Gen FTO berfungsi sebagai regulasi homeostasis, deposisi lemak dan pengaturan obesitas. Penelitian ini bertujuan untuk mengidentifikasi polimorfisme SNP g.125550A>T di ekson 3 gen FTO pada bangsa sapi potong Indonesia. Sampel darah diperoleh dari 209 ekor sapi, terdiri atas sapi bali (44), madura (20), Pesisir (20), katingan (20), Peranakan ongole (PO) (22), Pasundan (20), Sumba Ongole (SO) (11), brahman (20), simental (15), dan limousin (18). Polimorfisme gen FTO dianalisis menggunakan metode PCR-RFLP (HpyCH4III) dan direct sequencing. Hasil genotiping SNP g.125550A>T adalah polimorfik (genotipe AA, AT, dan TT) pada sapi madura, pesisir, katingan, PO, pasundan, SO, brahman, simental, dan limousin. Frekuensi alel A dan T masing-masing adalah 0,70, 0,68, 0,84, 0,89, 0,70, 0,86, 0,90, 0,73, 0,69 dan 0,30, 0,33, 0,16, 0,11, 0,30, 0,14, 0,10, 0,27, 0,31. Nilai Ho dan He masing-masing adalah 0,60-0,14 dan 0,44-0,18 serta dalam keseimbangan Hardy-Weinberg (P>0.05). Sementara pada sapi bali bersifat monomorfik hanya bergenotipe AA. Hasil sekuensing SNP g.125550A>T ditemukan mutasi tranvesi A menjadi T pada posisi nukleotida  g.125550. Berdasarkan hasil penelitian ini, dapat disimpulkan bahwa SNP 125550A>T gen FTO beragam dan berpotensi dijadikan marka genetik untuk kualitas daging pada bangsa sapi potong Indonesia.Kata Kunci: gen FTO, PCR-RFLP, Sapi, SNP g.125550A>TABSTRACTThe FTO gene functions as regulation of homeostasis, fat deposition and regulation of obesity. This study aimed to identify the polymorphism of SNP g.125550A>T in exon 3 of FTO gene in Indonesian beef cattle. Blood samples were collected from 209 cattle, including bali (44), madura (20), pesisir (20), katingan (20), PO (22), pasundan (20), SO (11), brahman (20), simental (15), and limousin (18). Polymorphism of the FTO gene was analyzed using PCR-RFLP (HpyCH4III) and direct sequencing methods. The results of genotyping SNP g.125550A>T was polymorphic (AA, AT and TT genotypes) in madura, pesisir, katingan, PO, pasundan, SO, brahman, simental, and limousin cattle. The frequency of A and T alleles were 0,70, 0,68, 0,84, 0,89, 0,70, 0,86, 0,90, 0,73, 0,69 and 0,30, 0,33, 0,16, 0,11, 0,30, 0,14, 0,10, 0,27, 0,31 respectively. The values of Ho and He were 0,60-0,14 and 0,44-0,18 respectively and in Hardy-Weinberg equilibrium (P>0,05). While in Bali cattle was monomorphic (AA genotype). Results of sequencing SNP g.125550A>T of the FTO gene found a transverse mutation A to T at the nucleotide position g.125550. As a result of this study, it can be concluded that SNP 125550A>T of the FTO gene was diverse and potentially used as genetic markers for meat quality in Indonesian beef cattle.Keywords: cattle, FTO gene, PCR-RFLP, SNP g.125550A>T.


2019 ◽  
Vol 24 (2) ◽  
pp. 56
Author(s):  
Ari Sulistyo Wulandari ◽  
HD Rahayu ◽  
SD Volkandari ◽  
N Herlina ◽  
S Anwar ◽  
...  

<p class="abstrak2">Stearoyl-Coenzyme A desaturase 1 (SCD1) belongs to the fatty acid family of desaturases. In lactating ruminants, the SCD1 protein is highly expressed in the mammary gland and is relevant for the fatty acid composition of milk and dairy products. Polymorphism of SCD1 gene in Holstein-Friesian (HF) cows could be used as a basis of molecular selection of cattle in order to increase their productivity. The aim of this study was to investigate the polymorphism of SCD1 gene of Holstein-Friesian cows in Indonesia. A total of 162 blood samples of HF cows were collected from four different locations i.e. Bogor, Sukabumi, Tasikmalaya and Enrekang districts. Genotyping of SCD1 gene used PCR-RFLP method with NcoI restriction enzyme. The result showed that three genotypes (AA, AV and VV) and two alleles (A and V) have successfully found and polymorphic. A allele was dominant in all populations (0.63) and in Hardy Weinberg Equilibrium. The highest A allele was found in Sukabumi (0.78) and the lowest was in Bogor (0.55). Heterozigosity observed and expected reached 0.471 and 0.470, respectively. In conclusion, genetic polymorphism was found in all population with dominant of A allele. This finding can be used as a early genetic information of Holstein-Friesian cattle in Indonesia and to build breeding strategy for improving of productivity especially improving of healthy fat milk. </p><p class="abstrak2"><span><br /></span></p>


2017 ◽  
Vol 7 (2) ◽  
pp. 106-117
Author(s):  
Boris Krešić ◽  
◽  
Ervina Halilović ◽  

The institutes of contemporary family law are rooted in Roman law, including the property relations of marital partners. From the historical perspective, the property-legal relations of marital partners in Bosnia and Herzegovina (BiH) were subject to religious regulations and the rules of the General Civil Code and Family Law of the Socialist Republic of Bosnia and Herzegovina. The article analyzes the solutions applied during the Roman, the Ottoman, and the AustroHungarian rule as well as the solutions included in the currently valid Basic Law on Marriage and Family Laws in BiH. The authors focus on the development of family law in terms of property relations of marital partners and provide historical-legal overview of the development of family law from the absolute power of pater familias to the full equality of marital partners.


2021 ◽  
Vol 4 (6) ◽  
pp. 385-389
Author(s):  
Emina Mostić ◽  

Prikaz//Review: Journal of the Faculty of Philosophy in Sarajevo (History, History of Arts, Archeology), posebno izdanje: Reflections on Life and Society in the Western Balkans. Studies in the History of Bosnia and Herzegovina, knjiga 7, broj 2, Faculty of Philosophy, University of Sarajevo, Sarajevo 2020, 321 str.


2019 ◽  
Vol 19 (2) ◽  
pp. 122-128
Author(s):  
Kusnadidi Subekti ◽  
Dedi Duryadi Solihin ◽  
Rudi Afnan ◽  
Asep Gunawan ◽  
Cece Sumanri

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.


Sign in / Sign up

Export Citation Format

Share Document