Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia

2019 ◽  
Vol 113 (8) ◽  
pp. 483-488
Author(s):  
Daniel H Haiyambo ◽  
Alex Ilunga ◽  
Ruth Nangombe ◽  
Grace Ababio ◽  
Toini Hatuikulipi ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Allele Frequencies ◽  
Cross Sectional ◽  
Plasmodium Ovale Curtisi ◽  
Genotype Frequencies ◽  
Female Genotype ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Genotype And Allele Frequencies

AbstractBackgroundNamibia has made significant gains in the fight against malaria, with a target of elimination by 2023. We examined the genotype and allele frequencies of glucose-6-phosphate dehydrogenase (G6PD) deficiency to inform decisions on primaquine use, as we recently detected clusters of Plasmodium ovale curtisi in Kavango.MethodsA multistaged cross-sectional sampling method was used to enrol 212 children 2–9 y of age from schools and clinics in the Okavango and Zambezi regions of northern Namibia. Genotypes for the 202 G→A and 376 A→G mutations were assigned by polymerase chain reaction restriction fragment length polymorphism.ResultsOf the 212 subjects enrolled, genotypes were available for 210, made up of 61 males and 149 females. G6PD-deficient males (hemizygotes) and females (homozygotes) constituted 3.27% (2/61) and 0.0% (0/149), respectively. Female heterozygotes (AA− and BA−) constituted 10.07% (15/149), while G6PD wild-type males (with A or B haplotype) and females (with AA, BB or AB haplotypes) consisted of 96.72% (59/61) and 89.93% (134/149), respectively. The A−, A and B allele frequencies were 0.0474, 0.3036 and 0.6490, respectively. Hardy–Weinberg equilibrium tests for female genotype frequencies did not show deviation (p=0.29).ConclusionsThe frequency of G6PD deficiency alleles in males in the Kavango and Zambezi regions of northern Namibia constitute 3.27%, a first report to inform policy on primaquine role out.

scholarly journals The oestrogen receptor gene (ESR) PvuII polymorphism allele frequencies in Czech Large White and Landrace

2005 ◽  
Vol 53 (2) ◽  
pp. 33-38
Author(s):  
Eliška Goliášová ◽  
Josef Dvořák
Keyword(s):  
Oestrogen Receptor ◽  
Receptor Gene ◽  
Allele Frequencies ◽  
Large White ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Pvuii Polymorphism ◽  
Landrace Population ◽  
Genotype And Allele Frequencies

Genotype and allele frequencies of the oestrogen receptor gene (ESR) PvuII restriction site were investigated in populations of the main Czech maternal breeds. 1253 sows and gilts and 396 boars in Large White and 334 sows and gilts and 318 boars in Landrace were genotyped from blood samples by the modified PCR-RFLP procedure as described in Short et al. (1997). In Large White, the frequency of allele B was about 0.51. In Landrace, the frequency of allele B reached from 0.02 for boars to 0.03 for sows. No significant deviations of the observed genotype frequencies from the frequencies expected according to Hardy-Weinberg equilibrium were found in both breed. Opposite trends in allele frequencies development could be assumed for analysed sows and boars of both breeds. In Large White sows the frequency of allele B raised probably due prefering sows with BB genotype, whereas in Landrace population the frequency of allele B decreased from yet unknown reasons.

Possible association between craniofacial dimensions and genetic markers in ESR1 and ESR2

2020 ◽  
Vol 47 (1) ◽  
pp. 65-71 ◽  
Author(s):  
Marjorie Ayumi Omori ◽  
Jennifer Tsi Gerber ◽  
Guido Artemio Marañón-Vásquez ◽  
Mirian Aiko Nakane Matsumoto ◽  
Suyany Gabriely Weiss ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Cross Sectional Study ◽  
Chi Square ◽  
Cross Sectional ◽  
Lateral Cephalograms ◽  
Mandibular Body ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
School Of Dentistry

Objective: To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements. Design: Cross-sectional study. Setting: School of Dentistry of Ribeirão Preto, University of São Paulo. Participants: A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included. Methods: Sagittal and vertical measurements (ANB, S-N, Ptm’-A’, Co-Gn, Go-Pg, N-Me, ANS-Me, S-Go and Co-Go) from lateral cephalograms were examined for craniofacial evaluation. DNA was extracted from saliva and genetic markers in ESR1 (rs2234693 and rs9340799) and in ESR2 (rs1256049 and rs4986938) were analysed by real-time polymerase chain reaction. Hardy–Weinberg equilibrium was evaluated using the Chi-square test within each marker. The associations between craniofacial dimensions and genotypes were analysed by linear regression and adjusted by sex and age. The established alpha was 5%. Results: Individuals carrying CC in ESR1 rs2234693 had a decrease of –3.146 mm in ANS-Me ( P = 0.044). In addition, rs4986938 in ESR2 was associated with S-N measurement ( P = 0.009/ ß = –3.465). This marker was also associated with Go-Pg measurement, in which the CC genotype had a decrease of –3.925 mm in the length of the mandibular body ( P = 0.043). Conclusion: The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.

Association between AUTS2 haplotypes and alcohol dependence in a Japanese population

2016 ◽  
Vol 28 (4) ◽  
pp. 214-220 ◽  
Author(s):  
Shin Narita ◽  
Kenta Nagahori ◽  
Daisuke Nishizawa ◽  
Eiji Yoshihara ◽  
Atsuko Kawai ◽  
...  
Keyword(s):  
Alcohol Dependence ◽  
Fragment Length Polymorphism ◽  
Allele Frequencies ◽  
Chain Reaction ◽  
Control Subjects ◽  
Genome Wide ◽  
Healthy Control ◽  
Polymerase Chain ◽  
And Control ◽  
Genotype And Allele Frequencies

ObjectiveRecent genome-wide analysis has indicated that the autism susceptibility candidate 2 (AUTS2) gene is involved in the regulation of alcohol consumption. We hypothesised that AUTS2 might be associated with the development of alcohol dependence. Therefore, in this exploratory study, we compared the genotype and allele frequencies of the polymorphisms rs6943555 and rs9886351 in the AUTS2 gene between patients with alcohol dependence and healthy control subjects living in a Japanese provincial prefecture. We also examined whether or not the haplotypes consisting of these polymorphisms are related to alcohol dependence.MethodsThe subjects of this study consisted of 64 patients with alcohol dependence and 75 unrelated healthy people. The AUTS2 genotypes were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method.ResultsNo significant differences in the genotype and allele frequencies of the polymorphisms AUTS2 rs6943555 and rs9886351 were found between alcohol dependence and control subjects. On the other hand, the frequencies of the AUTS2 haplotypes were significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence (p=0.0187).ConclusionThis suggests that the rs6943555 and rs9886351 A-A haplotype might affect the vulnerability to alcohol dependence pathogenesis. Further studies are needed to confirm the reproducibility of the results of this study with increased numbers of subjects.

scholarly journals Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0257562
Author(s):  
Linda Eva Amoah ◽  
Kwame Kumi Asare ◽  
Donu Dickson ◽  
Joana Abankwa ◽  
Abena Busayo ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Malaria Prevalence ◽  
Health Care Facilities ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Length Polymorphisms ◽  
G6pd Gene ◽  
High Prevalence ◽  
Care Facilities ◽  
Glucose 6 Phosphate Dehydrogenase

Introduction The global effort to eradicate malaria requires a drastic measure to terminate relapse from hypnozoites as well as transmission via gametocytes in malaria-endemic areas. Primaquine has been recommended for the treatment of P. falciparum gametocytes and P. vivax hypnozoites, however, its implementation is challenged by the high prevalence of G6PD deficient (G6PDd) genotypes in malaria endemic countries. The objective of this study was to profile G6PDd genotypic variants and correlate them with malaria prevalence in Ghana. Methods A cross-sectional survey of G6PDd genotypic variants was conducted amongst suspected malaria patients attending health care facilities across the entire country. Malaria was diagnosed using microscopy whilst G6PD deficiency was determined using restriction fragment length polymorphisms at position 376 and 202 of the G6PD gene. The results were analysed using GraphPad prism. Results A total of 6108 subjects were enrolled in the study with females representing 65.59% of the population. The overall prevalence of malaria was 36.31%, with malaria prevalence among G6PDd genotypic variants were 0.07% for A-A- homozygous deficient females, 1.31% and 3.03% for AA- and BA- heterozygous deficient females respectively and 2.03% for A- hemizygous deficient males. The odd ratio (OR) for detecting P. falciparum malaria infection in the A-A- genotypic variant was 0.0784 (95% CI: 0.0265–0.2319, p<0.0001). Also, P. malariae and P. ovale parasites frequently were observed in G6PD B variants relative to G6PD A- variants. Conclusion G6PDd genotypic variants, A-A-, AA- and A- protect against P. falciparum, P. ovale and P. malariae infection in Ghana.

scholarly journals A test for Hardy-Weinberg equilibrium on the X chromosome for sex-biased admixed populations

2019 ◽  
Author(s):  
Daniel Backenroth ◽  
Shai Carmi
Keyword(s):  
X Chromosome ◽  
Random Mating ◽  
Allele Frequencies ◽  
Ratio Test ◽  
Weinberg Equilibrium ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Control Step ◽  
Hardy Weinberg Equilibrium ◽  
Males And Females

AbstractGenome-wide scans for deviations from Hardy-Weinberg equilibrium (HWE) are commonly applied to detect genotyping errors. In contrast to the autosomes, genotype frequencies on the X chromosome do not reach HWE within a single generation. Instead, if allele frequencies in males and females initially differ, they oscillate for a few generations towards equilibrium. Several populations world-wide have experienced recent sex-biased admixture, namely, their male and female founders differed in ancestry and thus in allele frequencies. Sex-biased admixture makes testing for HWE difficult on X, because deviations are naturally expected, even under random mating post-admixture and error-free genotyping. In this paper, we develop a likelihood ratio test and a χ2 test that detect deviations from HWE on X while allowing for natural deviations due to sex-biased admixture. We demonstrate by simulations that our tests are powerful for detecting deviations due to non-random mating, while at the same time they do not reject the null under historical sex-biased admixture and random mating thereafter. We also demonstrate that when applied to 1000 Genomes project populations (e.g., as a quality control step), our tests reject fewer SNPs (among those showing frequency differences between the sexes) than other tests.

Screening of Glucose-6-Phosphate Dehydrogenase Deficiency in Neonatal Hyperbilirubinaemia at 300-Bedded Pyin Oo Lwin General Hospital

2019 ◽  
Vol 31 (3) ◽  
pp. 226-232
Keyword(s):  
General Hospital ◽  
G6pd Deficiency ◽  
Serum Bilirubin Level ◽  
Total Serum ◽  
Cross Sectional ◽  
Qualitative And Quantitative ◽  
Quantitative Measurements ◽  
Human Enzyme ◽  
High Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas, affecting more than 400 million people worldwide. This hospital- and laboratory-based, cross-sectional descriptive study was conducted with the aim of determining the prevalence of G6PD deficiency among 200 newborns at 300-bedded Pyin Oo Lwin General Hospital during January to March 2017. The participants were 103 girls (58.5%) and 97 boys (41.5%). Both qualitative and quantitative measurements by using Brewer's method and G-SIX kit method were applied for diagnosis of G6PD deficiency. Total serum bilirubin level was measured by Bilirubinometer. Of the 200 newborns, 21(10.5%) were G6PD deficient. The overall prevalence of G6PD deficiency was 10.5% (21/200) and male was predominant than female (17.5% vs 3.9%). Out of 10.5% (21/100)G6PD deficient newborns, 5(23.8%) and 16(76.2%) were mild and moderate G6PD deficiency, respectively. Regarding hyperbilirubinaemia, 9(42.9%), 3(14.3%), 2(19.0%) and 5(23.8%) were severe, moderate and mild hyperbilirubinaemia and normal bilirubin, respectively. This study showed that a significant correlation between the severity of hyperbili- rubinaemia and G6PD activity (p <0.05). Taking into consideration of the above results, the high prevalence can be useful for providing appropriate prevention and early treatment of complications in routine neonatal screening in this area.

Frequency of G6PD Deficiency in General Population at District Bannu, Khyber Pakhtunkhwa, Pakistan

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Muhammad Shoaib Khan ◽  
Arif Ullah ◽  
Sami ul Haq ◽  
Mohammd Shoaib
Keyword(s):  
General Population ◽  
G6pd Deficiency ◽  
Clinical Laboratory ◽  
Human Subjects ◽  
Cross Sectional ◽  
Khyber Pakhtunkhwa ◽  
Significant Difference ◽  
Moderate Anemia ◽  
Males And Females ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disease and it is a common enzymaticdisease of RBCs in humans X linked recessive condition are more common in males than females. The said deficiency leads toaffecting >400 million people worldwide Individuals, normally males, with deficient alleles are helpless to neonatal jaundice andintense hemolytic anemia, usually during disease, after treatment with specific medications or subsequent to eating Fava beans..Objective: To measure the frequency of Glucose-6-Phosphate-Dehydrogenase deficiency in general population at district Bannu,Khyber Pakhtunkhwa Pakistan.Material and Methods: This cross-sectional descriptive study was conducted on 500 human subjects, who were referred forG6PD assay, in Samad clinical Laboratory, District Bannu Khyber Pakhtunkhwa, Pakistan, from July 2018 to July 2019. 500ccvenous whole blood was collected in EDTA containing vial, for G6PD Test. (Span Diagnostic S.A.R.L, France). Patients of any Age,Sex & area having fever, hematuria, headache, visible jaundice, family history, malaria and anemia were included in this study,while patients suffering from renal disease, any malignancy & not willing persons were excluded.Results: Out of the total 500 hundred, 370 (74%) were males and females were 130 (26%). Total 64/500 (12.8 %) were G6PDdeficient, with 55 male and 09 were female. Malaria positive with G6PD deficiency were 13/64 (20.31%), with 12 males and onefemale. Statistically significant difference among each group (p= 0.0022) was noted. Mean age of the G6PD deficient persons was(2.8 ± 1.03) years. Anemia was graded as Hemoglobin less than 11.5g/dl was taken as anemia. Severe anemia as Hb < 7 g/dl,moderate anemia as Hb ranged between 7-10 g/dl and mild if Hb ranged between 10-11.5 g/dl.Among 370 males, 86 persons had hemoglobin of less than 11.5 g/dl, 42 had hemoglobin 7-10 g/dl and 7 patients had hemoglobinless than 7 g/dl, only 235 patients had hemoglobin more than 11.5, among 130 females, 33 patients had hemoglobin of less than11.5 g/dl, 17 patients had hemoglobin 7-10 g/dl and 05 patients had hemoglobin less than 7 g/dl, only 75 patients had hemoglobinmore than 11.5 g/dl.Conclusion: This study shows high frequency of G6PD Deficiency in district Bannu Khyber Pakhtunkhwa Pakistan especially veryhigh frequency in males than females.

scholarly journals Molecular characterization of Glucose-6-Phosphate Dehydrogenase: do single nucleotide polymorphisms affect hematological parameters in HIV positive patients?

2020 ◽  
Author(s):  
Kwabena Owusu Danquah ◽  
Kofi Mensah ◽  
Charles Nkansah ◽  
Samuel Kwasi Appiah ◽  
Mark Noagbe ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
G6pd Deficiency ◽  
Hematological Parameters ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Mean Cell Volume ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with a deranged hematological profile. Results: Out of the 200 participants, 13.0% (26/200) were G6PD deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A → G only [Enzyme activity (EA): 1.19 U/g Hb], 202G → A only [EA: 1.41 U/g Hb], and G202/A376 SNPs [EA: 1.14 U/g Hb], respectively. Having the 376A → G mutation was associated with lower red blood cell (RBC) count [3.38 x106/µL (3.16-3.46) vs 3.95 x106/µL (3.53-4.41), p=0.010], but higher mean cell volume (MCV) [102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p=0.041] and mean cell hemoglobin (MCH) [33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p=0.038] whereas possessing the 202G → A mutation was associated with higher MCV only [98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p=0.041] compared to G6PD non-deficient participants.

scholarly journals Polymorphisms in the Leptin and SCD genes in Buffaloes of the Amazon

2021 ◽  
Vol 10 (13) ◽  
pp. e233101321222
Author(s):  
Caio Santos Silva ◽  
Ednaldo da Silva Filho ◽  
Lorena Keyse Nery da Silva ◽  
Rafaella Sousa Ferraz ◽  
Amanda de Sousa Matos ◽  
...  
Keyword(s):  
Milk Production ◽  
Bubalus Bubalis ◽  
Shannon Index ◽  
Inbreeding Coefficients ◽  
Genotype Frequencies ◽  
Mixed Breed ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Polymerase Chain ◽  
Amazonian Region

The objective this work was to evaluate genetically the buffaloes populations using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in the leptin and stearoyl-CoA desaturase (SCD) genes, and associate the genotypes with milk production. Sixty-nine samples of Bubalus bubalis - 38 Murrah breed, 18 Mediterranean and 13 mixed-breed of the Murrah with Mediterranean - were evaluated. Allele and genotype frequencies, the heterozygosity observed and expected, the inbreeding coefficients (FIS), the probabilities of the Hardy-Weinberg equilibrium, the F statistic for population differentiation and Shannon index were calculated using GENEPOP and GenALEx programs. The associations of the different genotypes with a role in milk production were tested by Analysis of Variance (ANOVA) and t-test. We reported the leptin and SCD allele contribution to genetic variability in buffaloes herds in the Brazilian Amazonian region. The A allele was more representative in leptin and SCD genes for all breed groups. No significant effects between genotypes and milk production were found in the present study, but there is an indicative that AA genotype in leptin gene affects milk production in Murrah breed.

Seizure following acute hemolysis caused by Glucose-6-phosphate dehydrogenase Deficiency

2019 ◽  
Author(s):  
Bahram Darbandi ◽  
Simin Sajudi ◽  
Vahid Aminzadeh ◽  
Kioomars Golshekan ◽  
Afagh Hassanzadeh Rad ◽  
...  
Keyword(s):  
Drinking Water ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Statistical Significance ◽  
Cross Sectional Study ◽  
P Value ◽  
Cross Sectional ◽  
Exact Test ◽  
History Of ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Storage of platelet concentrates (PCs) at room temperature (20-24°C) limits its storage time to 5 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzyme deficiency of the human red blood cells . Most of G6PD deficient individuals are asymptomatic, but acute hemolytic anemia may be presented with nausea, vomiting, abdominal pain, headache, jaundice, pallor, discoloration of the urine, chills, and fever. Seizure is reported as a rare symptom, as well. The present study aimed to investigate seizure following acute hemolysis caused by Glucose-6-phosphate dehydrogenase deficiency. Material and Methods:  This analytic cross-sectional study was conducted on all consecutive patients aged 1-12 years with G6PD deficiency hospitalized for hemolysis in 17 Shahrivar children hospital, Rasht, Iran, in 2016. Demographic characteristics and other variables such as place of inhabitants, type of drinking water, history of seizure in the patients and family, cause of hemolysis, hemoglobin level and hemoglobinuria on admission, and infection history prior to hemolysis were recorded. Data were analyzed by Mann-Whitney U test and Fischer Exact Test.  P-value < 0.05 indicated statistical significance and data were assessed by SPSS (version 20). Results:  The youngest patient was one year old and the oldest was 11 years old. Most of them were males (68.9%). Out of 244 patients, 8 ones (3.3%) experienced seizure. There was a significant correlation between seizure occurrence and family history of seizure (p=0.03) as well as fava bean consumption (p=0.019) as the causes of hemolysis; but not with infection as the cause of hemolysis, hemoglobin or hemoglobinuria level on admission, types of drinking water, place of living, and gender. Methemoglobinemia was considered as the main cause of the seizure. Conclusion: Although the rate of seizure was not so high (3.3%), it seems that seizure can be a critical and potentially life-threatening complication in these patients. Environmental factors may also play a role in the pathogenesis of the seizure in these patients.

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