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1.
BMC Public Health ; 24(1): 1467, 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38822327

RESUMO

BACKGROUND: Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening. METHODS: This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits. RESULTS: Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I2: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (ß = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables. CONCLUSION: With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.


Assuntos
Anemia Falciforme , Exames Pré-Nupciais , Traço Falciforme , Humanos , Traço Falciforme/diagnóstico , África , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Programas de Rastreamento , Testes Genéticos
2.
Curr Issues Mol Biol ; 45(9): 7275-7285, 2023 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-37754244

RESUMO

This review highlights the effect of carcinomas on the results of the examination of autosomal genetic traits for identification and paternity tests when carcinoid tissue is the only source and no other samples are available. In DNA typing or genetic fingerprinting, variable elements are isolated and identified within the base pair sequences that form the DNA. The person's probable identity can be determined by analysing nucleotide sequences in particular regions of DNA unique to everyone. Genetics plays an increasingly important role in the risk stratification and management of carcinoma patients. The available information from previous studies has indicated that in some incidents, including mass disasters and crimes such as terrorist incidents, biological evidence may not be available at the scene of the accident, except for some unknown human remains found in the form of undefined human tissues. If these tissues have cancerous tumours, it may affect the examination of the genetic traits derived from these samples, thereby resulting in a failure to identify the person. Pathology units, more often, verify the identity of the patients who were diagnosed with cancer in reference to their deceased tumorous relatives. Genetic fingerprinting (GF) is also used in paternity testing when the alleged parent disappeared or died and earlier was diagnosed and treated for cancer.

3.
Hum Reprod ; 37(7): 1375-1378, 2022 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-35604365

RESUMO

Recent advances in developing polygenic scores have made it possible to screen embryos for common, complex conditions and traits. Polygenic embryo screening (PES) is currently offered commercially, and though there has been much recent media and academic coverage, reproductive specialists' points of view have not yet been prominent in these discussions. We convened a roundtable of multidisciplinary experts, including reproductive specialists to discuss PES and its implications. In this Opinion, we describe four clinically relevant issues associated with the use of PES that have not yet been discussed in the literature and warrant consideration.


Assuntos
Programas de Rastreamento , Herança Multifatorial , Atenção , Embrião de Mamíferos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Fenótipo
4.
Front Plant Sci ; 14: 1228084, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37780513

RESUMO

Introduction: Water is one of the important factors affecting the yield of leafy vegetables. Lettuce, as a widely planted vegetable, requires frequent irrigation due to its shallow taproot and high leaf evaporation rate. Therefore, screening drought-resistant genotypes is of great significance for lettuce production. Methods: In the present study, significant variations were observed among 13 morphological and physiological traits of 42 lettuce genotypes under normal irrigation and water-deficient conditions. Results: Frequency analysis showed that soluble protein (SP) was evenly distributed across six intervals. Principal component analysis (PCA) was conducted to transform the 13 indexes into four independent comprehensive indicators with a cumulative contribution ratio of 94.83%. The stepwise regression analysis showed that root surface area (RSA), root volume (RV), belowground dry weight (BDW), soluble sugar (SS), SP, and leaf relative water content (RWC) could be used to evaluate and predict the drought resistance of lettuce genotypes. Furthermore, the drought resistance ranks of the genotypes were similar according to the drought resistance comprehensive evaluation value (D value), comprehensive drought resistance coefficient (CDC), and weight drought resistance coefficient (WDC). The cluster analysis enabled the division of the 42 genotypes into five drought resistance groups; among them, variety Yidali151 was divided into group I as a strongly drought-resistant variety, group II included 6 drought-resistant genotypes, group III included 16 moderately drought-resistant genotypes, group IV included 12 drought-sensitive genotypes, and group V included 7 highly drought-sensitive genotypes. Moreover, a representative lettuce variety was selected from each of the five groups to verify its water resistance ability under water deficit conditions. In the drought-resistant variety, it was observed that stomatal density, superoxide anion (O2.-wfi2) production rate, and malondialdehyde (MDA) content exhibited a low increase rate, while catalase (CAT), superoxide dismutase (SOD), and that peroxidase (POD) activity exhibited a higher increase than in the drought-sensitive variety. Discussion: In summary, the identified genotypes are important because their drought-resistant traits can be used in future drought-resistant lettuce breeding programs and water-efficient cultivation.

5.
Trends Plant Sci ; 20(3): 139-44, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25524213

RESUMO

Future progress in crop breeding requires a new emphasis in plant physiological phenotyping for specific, well-defined traits. Success in physiological phenotyping to identify parents for use in breeding efforts for improved cultivars has been achieved by employing a multi-tier screening approach with different levels of sophistication and trait resolution. Subsequently, cultivar development required an integrated mix of classical breeding approaches and one or more tiers of phenotyping to identify genotypes expressing the desired trait. The role of high throughput systems can be useful; here, we emphasize that this approach is likely to offer useful results at an initial tier of phenotyping and will need to be complemented with more directed tiers of phenotyping.


Assuntos
Cruzamento/métodos , Produtos Agrícolas/genética , Fenótipo
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