Study on characteristics of gene mutation G6PD in patient of enzyme G6PD deficiency

2021 ◽  
Vol 25 (2) ◽  
pp. 55-66
Author(s):  
Thi Thao Ngo ◽  
Van Khanh Tran
Keyword(s):  
Ethnic Groups ◽  
Gene Mutation ◽  
G6pd Deficiency ◽  
Symptomatic Treatment ◽  
Northern Region ◽  
Silent Mutation ◽  
Coding Region ◽  
G6pd Gene ◽  
Mutant Forms

G6PD deficiency is the most common genetic enzyme pathology in humans. The disease is caused by a gene mutation G6PD-the majority of cases are asymptomatic when exposed to oxidizing agents (drugs, chemicals, or foods). The disease is temporarily stopped at symptomatic treatment, so early detection is to help improve the quality of life for the patient, to prevent possible complications. The study was conducted to detect mutations in all regions of the gene G6PD. Through the study of 262 boys, 38 girls in 25 provinces in the northern region of Vietnam of 5 ethnic groups showed the results finding 11 deviated mutations that affect the coding region of the G6PD gene is Viangchan (c.871G> A) (24.33%), Kaipping (c.1388G> A) (22.67%), Canton (c.1376G> T) (18.67%), Union (c.1360C> T) (13.33%), Gaohe (cc95A > G) (6.67%), QuingYuang (c.392G> T) (4.33%), Chiniese-5 (c.1024C> T) (4.33%), Orissa (c.131C> G) (1.33%) Chatham (c.1003G> A) (1%) and Taiwan2 (c.1330G> A) (0.33%); 78/297 cases of silent mutation (c.1311C> T) associated with most of the above mutations. Discovered 2 mutant forms Orisa and Taiwan 2 that have never appeared in Vietnam. These mutations are spread evenly among the Kinh, Muong, Tay, Nung and Thai ethnic groups, of which the Kinh mainly carry the Viangchan mutation, the remaining Muong are the Union and the Tay, Nung Thai are most of Kaiping mutation

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population

2021 ◽  
pp. 1-7
Author(s):  
Jian Gao ◽  
Sheng Lin ◽  
Shiguo Chen ◽  
Qunyan Wu ◽  
Kaifeng Zheng ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Amplification Refractory Mutation System ◽  
Gene Variants ◽  
Coding Region ◽  
G6pd Gene ◽  
Mutation System ◽  
Hotspot Mutations ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Generation Sequencing

<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. <b><i>Methods:</i></b> A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G&#x3e;T, c.1388G&#x3e;A, c.95A&#x3e;G, c.1024C&#x3e;T, c.392G&#x3e;T, and c.871G&#x3e;A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. <b><i>Results:</i></b> The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T&#x3e;C, which was in the noncoding region. c.1376G&#x3e;T and c.1388G&#x3e;A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. <b><i>Conclusions:</i></b> This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

scholarly journals Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia

2017 ◽  
Vol 41 (1) ◽  
pp. 56
Author(s):  
IDG Ugrasena ◽  
Taku Shirakawa ◽  
Kaoru Nishiyama ◽  
Masafumi Matsuo
Keyword(s):  
G6pd Deficiency ◽  
Pedigree Analysis ◽  
Silent Mutation ◽  
Chinese Family ◽  
Nucleotide Change ◽  
G6pd Gene ◽  
Glucose 6 Phosphate Dehydrogenase

The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of  MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T), corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T), corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation).

SCIENTIFIC BASIS OF POSTGRADUATE TRAINING FOR OFFICER WORKING ETHNIC AFFAIRS USING STATE BUDGET IN THE PERIOD OF 2018 – 2025

2017 ◽  
Author(s):  
La Duc Minh ◽  
Nguyen Thi Hao ◽  
Vu Thi Thuy
Keyword(s):  
Economic Development ◽  
Ethnic Groups ◽  
Human Resource ◽  
Postgraduate Training ◽  
Scientific Basis ◽  
National Defense ◽  
High Quality ◽  
State Budget ◽  
International Integration

Ethnic affairs play an important role in socio of ethnic groups’ solidarity, assurance of security and national defense stability. In -economic development, maintenanceorder to improve the quality of ethnic affairs, it is practical to carry out postgraduate training of officer implementing ethnic affairs using state budget with the aim of encouraging and enhancing officer quality to satisfy high-quality human resource in international integration.

scholarly journals Estimating the predictive power of silent mutations on cancer classification and prognosis

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Tal Gutman ◽  
Guy Goren ◽  
Omri Efroni ◽  
Tamir Tuller
Keyword(s):  
Gene Expression ◽  
Predictive Power ◽  
Predictive Ability ◽  
Cancer Classification ◽  
Silent Mutation ◽  
Cancer Type ◽  
Coding Region ◽  
Probability Of Survival ◽  
Diagnosis And Prognosis ◽  
Cancer Types

AbstractIn recent years it has been shown that silent mutations, in and out of the coding region, can affect gene expression and may be related to tumorigenesis and cancer cell fitness. However, the predictive ability of these mutations for cancer type diagnosis and prognosis has not been evaluated yet. In the current study, based on the analysis of 9,915 cancer genomes and approximately three million mutations, we provide a comprehensive quantitative evaluation of the predictive power of various types of silent and non-silent mutations over cancer classification and prognosis. The results indicate that silent-mutation models outperform the equivalent null models in classifying all examined cancer types and in estimating the probability of survival 10 years after the initial diagnosis. Additionally, combining both non-silent and silent mutations achieved the best classification results for 68% of the cancer types and the best survival estimation results for up to nine years after the diagnosis. Thus, silent mutations hold considerable predictive power over both cancer classification and prognosis, most likely due to their effect on gene expression. It is highly advised that silent mutations are integrated in cancer research in order to unravel the full genomic landscape of cancer and its ramifications on cancer fitness.

scholarly journals Religiousness and Quality of Life Among Older Adults of Different Ethnic Groups in Malaysia: A Five-Year Follow-up Study

2021 ◽  
Author(s):  
Min Min Tan ◽  
Daniel D. Reidpath ◽  
Rachel Sing-Kiat Ting ◽  
Pascale Allotey ◽  
Tin Tin Su
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Ethnic Groups ◽  
Follow Up Study

scholarly journals AB0490 IMPACT OF SPONDYLOARTHRITIS ON WORK PRODUCTIVITY: A REAL LIFE STUDY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1272.1-1272
Author(s):  
M. Ben Majdouba ◽  
S. Boussaid ◽  
S. Rekik ◽  
S. Jemmali ◽  
H. Ajlani ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Age At Onset ◽  
Productivity Loss ◽  
Diagnostic Delay ◽  
Work Productivity ◽  
Symptomatic Treatment ◽  
Work Outcomes ◽  
Joint Involvement ◽  
The Mean

Background:Work productivity of patients with spondyloarthritis is frequently affected by their disease.Objectives:We aim to identify disease-related factors associated with poor work productivity in patients with spondyloarthritis.Methods:A cross-sectional study was performed in patients with spondyloarthritis. Data on disease characteristics were collected as well as specific indices: Visual analogue scale (VAS) for fatigue and pain, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Ankylosing Spondylitis Disease Activity Score with CRP (ASDAS-CRP), Bath Ankylosing Spondylitis Functionnel Index (BASFI) and Bath Ankylosing Spondylitis Metrology Index (BASMI). EuroQol-5D (EQ5D) was used to assess health-related quality of life. Work productivity was assessed by the Work Productivity and Activity Impairment scale (WPAI:SpA). Factors associated with presenteeism, absenteeism and work productivity loss were evaluated.Results:One hundred patients were enrolled (73 men and 27 women); mean age was 43.68 ± 10.3 years. Fifty nine percent of patients were employed, 26% were off work and 15% were retired of which 8% were in early retirement. Sixty seven percent of patients had ankylosing spondylitis, 17% had rheumatism associated with inflammatory bowel disease and 16% had psoriatic rheumatism. The average disease duration was 12.24 ± 8.73 years. Mean age at onset was 33.2 ± 10 years [18-59]. The average diagnostic delay was 2.41 ± 3 years; it was more than five years in 17% of cases. Sacroiliac pain has been noted in 69 patients, lumbar or cervical stiffness in 78 patients and peripheral joint involvement in 18 cases. Thirty one percent of patients had hip joint involvement and 49% had extra-articular manifestation. Fifty percent had inflammatory biological syndrome, 63% were treated with anti-TNFα and 58% needed symptomatic treatment regularly. The mean fatigue and pain VAS was respectively 5.58 ± 2.5 and 5.56 ± 2.9. The mean BASDAI was 4.4 ± 2.4, the average BASFI was 4.6 ± 2.7 and the average ASDAS-CRP was 2.77 ± 1.18. The mean BASMI was 4.4 ± 2.8. The mean EQ5D score was 0.485 ± 0.378. Among employed patients, mean absenteeism, presenteeism and work productivity loss was 21.8 ± 33.13%, 42 ± 32% and 46.5 ± 35.31%, respectively. These work outcomes were correlated to diagnostic delay ≥ 2 years (p<0.03), peripheral joint involvement (p=0.006), psoriasis (p=0.02), inflammatory biological syndrome (p<0.001), need of symptomatic treatment (p=0.001), fatigue and pain VAS ≥ 4 (p<0.001), BASDAI ≥ 4 (p<0.001), ASDAS-CRP ≥ 2.1 (p<0.001), BASFI ≥ 4 (p<0.001), BASMI ≥ 4 (p=0.002) and low EQ5D score (p<0.001). Work productivity loss was in addition correlated to age at onset < 25 years (p=0.03).Conclusion:Active disease, reduced physical function and poorer quality of life are associated with reduced work productivity. Early diagnosis and good disease management especially fatigue and pain can potentially improve work outcomes in patients with spondyloarthritis.Disclosure of Interests:None declared.

scholarly journals Quality of care for anxiety and depression in different ethnic groups by family practitioners in urban areas in the Netherlands

2010 ◽  
Vol 32 (4) ◽  
pp. 368-376 ◽  
Author(s):  
Thijs Fassaert ◽  
Mark Nielen ◽  
Robert Verheij ◽  
Arnoud Verhoeff ◽  
Jack Dekker ◽  
...  
Keyword(s):  
Quality Of Care ◽  
The Netherlands ◽  
Ethnic Groups ◽  
Urban Areas ◽  
Anxiety And Depression ◽  
Family Practitioners

scholarly journals The association of CYP2D6 gene polymorphisms in the full-length coding region with higher recurrence rate of vivax malaria in Yunnan Province, China

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Herong Huang ◽  
Ying Dong ◽  
Yanchun Xu ◽  
Yan Deng ◽  
Canglin Zhang ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gene Mutation ◽  
Dna Sequences ◽  
Vivax Malaria ◽  
Yunnan Province ◽  
Reference Sequence ◽  
Radical Cure ◽  
Coding Region ◽  
Cyp2d6 Gene ◽  
Genotype 4

Abstract Background Accumulating evidence suggest that compromised CYP2D6 enzyme activity caused by gene mutation could contribute to primaquine failure for the radical cure of vivax malaria. The current study aims to preliminarily reveal the association between the recurrence of vivax malaria in Yunnan Province and CYP2D6 gene mutation by analysing polymorphisms in the entire coding region of human CYP2D6 gene. Methods Blood samples were collected from patients with vivax malaria, who received "chloroquine and 8-day course of primaquine therapy" in Yunnan Province. The suspected relapsed cases were determined by epidemiological approaches and gene sequence alignment. PCR was conducted to amplify the CYP2D6 gene in the human genome, and the amplified products were then sequenced to compare with the non-mutation “reference” sequence, so as to ensure correct sequencing results and to determine 9 exon regions. Subsequently, the DNA sequences of 9 exons were spliced into the coding DNA sequence (CDS), which, by default, is known as maternal CDS. The paternal CDS was obtained by adjusting the bases according to the sequencing peaks. The mutation loci, haplotypes (star alleles), genotypes and odds ratios (OR) of all the CDSs were analysed. Results Of the119 maternal CDS chains in total with 1491 bp in length, 12 mutation sites in the 238 maternal and paternal CDS chains were detected. The c.408G > C mutation was most frequently detected in both suspected relapsed group (SR) and non-relapsed group (NR), reaching 85.2% (75/88) and 76.0% (114/150), respectively. The c.886C > T mutation was most closely related to the recurrence of vivax malaria (OR = 2.167, 95% CI 1.104–4.252, P < 0.05). Among the 23 haplotypes (Hap_1 ~ Hap_23), Hap_3 was non-mutant, and the sequence structure of Hap_9 was the most complicated one. Five star alleles, including *1, *2, *4, *10 and *39, were confirmed by comparison, and CYP2D6*10 allele accounted for the largest percentage (45.4%, 108/238). The frequency of CYP2D6*2 allele in the SR group was significantly higher than that in the NR group (Χ2 = 16.177, P < 0.05). Of the defined 24 genotypes, 8 genotypes, including *4/*4, *4/*o, *2/*39, *39/*m, *39/*x, *1/*r, *1/*n, and *v/*10, were detected only in the SR group. Conclusion Mutation of CYP2D6*10 allele accounts for the highest proportion of vivax malaria cases in Yunnan Province. The mutations of c. 886C > T and CYP2D6*2 allele, which correspond to impaired PQ metabolizer phenotype, are most closely related to the relapse of vivax malaria. In addition, the genotype *4/*4 with null CYP2D6 enzyme function was only detected in the SR group. These results reveal the risk of defected CYP2D6 enzyme activity that diminishes the therapeutic effect of primaquine on vivax malaria.

Students’ satisfaction with hostel accommodations in higher education institutions

2017 ◽  
Vol 15 (5) ◽  
pp. 652-666 ◽  
Author(s):  
Ayodeji Emmanuel Oke ◽  
Clinton Ohis Aigbavboa ◽  
Marcia M. Raphiri
Keyword(s):  
Higher Education ◽  
Ethnic Groups ◽  
Higher Education Institutions ◽  
Item Score ◽  
Content Type ◽  
Significant Difference ◽  
The Difference ◽  
Higher Institutions ◽  
Students Satisfaction

Purpose There are several types of accommodation available to students of higher education institutions, and it is the responsibility of the institutions to focus on factors that can attract and retain students to their residences. This study aims to investigate satisfaction of higher institutions students with on-campus accommodation with an emphasis on the ethnicity of the students. Design/methodology/approach Using convenience sampling method, questionnaires were administered to students of selected residences in the study area. Mean item score was used to rank identified factors, whereas mean gap and Kruskal–Wallis K-test were adopted to examine the difference in opinion of students from various ethnic groups. Findings Overall, major features that make students dissatisfied with university-owned accommodations are enforcement of rule that compels all students to move out with their belongings during each recess, the effectiveness of the lift system, the size of wardrobe and closet, laundry service in the residence, numbers of electrical sockets and window quality. Considering dwelling unit features, neighbourhood, environmental, building quality and services provided by residence management, this study reveals that there is a significant difference in the satisfaction of students of diverse ethnic groups with their accommodation. Research limitations/implications The study was limited to on-campus residences owned by higher education institutions in South Africa. However, the findings of the study can be adopted for off-campus residences, and such owned by private individuals, agencies and other bodies provided are approved by the institutions. Originality/value The findings of this study will help management of higher education institutions to improve quality of services in their residences for the satisfaction of their students. Developers, contractors and other stakeholders involved in construction of these residences will also find the findings useful in designing and construction of the facilities.

Sign in / Sign up

Export Citation Format

Share Document