RESUMEN
The Chilean hazelnut (Gevuina avellana Mol., Proteaceae) is a native tree of Chile and Argentina of edible fruit-type nut. We applied two approaches to contribute to the development of strategies for mitigation of the effects of climate change and anthropic activities in G. avellana. It corresponds to the first report where both tools are integrated, the MaxEnt model to predict the current and future potential distribution coupled with High-Resolution Melting Analysis (HRM) to assess its genetic diversity and understand how the species would respond to these changes. Two global climate models: CNRM-CM6-1 and MIROC-ES2L for four Shared Socioeconomic Pathways: 126, 245, 370, and 585 (2021−2040; 2061−2080) were evaluated. The annual mean temperature (43.7%) and water steam (23.4%) were the key factors for the distribution current of G. avellana (AUC = 0.953). The future prediction model shows to the year 2040 those habitat range decreases at 50% (AUC = 0.918). The genetic structure was investigated in seven natural populations using eight EST-SSR markers, showing a percentage of polymorphic loci between 18.69 and 55.14% and low genetic differentiation between populations (Fst = 0.052; p < 0.001). According to the discriminant analysis of principal components (DAPC) we identified 10 genetic populations. We conclude that high-priority areas for protection correspond to Los Avellanos and Punta de Águila populations due to their greater genetic diversity and allelic richness.
RESUMEN
Breast cancer is the leading cause of cancer deaths in Algerian women. Our aim is to analyze BRCA1 and BRCA2 genes mutations in 100 Algerian patients with a family history suggestive of genetic predisposition to breast cancer. BRCA1 and BRCA2 mutations were searched by High-Resolution Melting (HRM) analysis, followed by direct sequencing, and Multiplex Ligation- Dependent Probe Amplification (MLPA) for large deletions or duplications. An unclassified variant c.5117G>C, p.Gly1706ALA and a pathogenic mutation c.2125_2126insA, p.Phe709TyrfX3 were detected in the BRCA1 gene. No large deletions or duplications were detected with MLPA. One deleterious mutation c.250C>T, p.Gin84X, and one unclassified variant c.9364G>A, p. Ala3122Thr were identified in BRCA2 gene. The pathological significance of this variant has to be specified and analysis of its segregation in the family and differs from those provided in the literature. Although on a limited cohort, our findings suggest a higher frequency of BRCA1/2 mutations in Algeria and it would be of interest to search for the presence of these pathogenic mutations in other family member for preventing the risk of cancer.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Detección Precoz del Cáncer/métodos , Mutación de Línea Germinal , Neoplasias Ováricas/genética , Adulto , Anciano , Neoplasias de la Mama/diagnóstico , Análisis Mutacional de ADN/métodos , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Desnaturalización de Ácido Nucleico , Neoplasias Ováricas/diagnóstico , PronósticoRESUMEN
The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People's Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE). High resolution melting (HRM) analysis was applied for genetic diagnosis of thalassemia. The prevalence of patients with the α-thalassemia (α-thal) trait was 1.01% (87/8578). ß-Thalassemia (ß-thal) was carried by 112 women with a frequency of 1.3%. The carrier rate of thalassemia genes in the studied samples was nearly 2.32%. We excluded those without iron studies, with 159 cases as our sample, a total of 63/159 cases (39.6%) also had iron deficiencies. Moreover, Hb E (HBB: c.79G > A), and Hb D-Punjab (HBB: c.364G > C) were the most common Hb variants after thalassemia trait with frequencies of 0.16 and 0.06%, respectively. Only two Hb S (HBB: c.20A > T) carriers were detected in 20 months of screening time. Hb A1c results could be confidently reported on all cases except the Hb D-Punjab and Hb E variants. This study provided a detailed prevalence and molecular characterization of thalassemia in the Huzhou region, and will contribute toward the development of prevention strategies and reducing excessive health care costs in this area, allowing better management of hemoglobinopathies.