14 research outputs found

    Inter simple sequence repeat (ISSR) analysis of Ethiopian white lupine (Lupinus albus L.)

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    White lupine (Lupinus albus L.) collected from two zones (West Gojjam and Awi) of Amhara region and one zone (Metekel) of Benishangul - Gumuz regional state of Ethiopia were studied using inter simple sequence repeat (ISSR) markers in an attempt to assess the genetic diversity. Four ISSR primers of which three were dinucleotide repeats and one, a penta nucleotide repeat amplified a total of 39 clear and reproducible bands. Both unweighted pair- group method with arithmetic average (UPGMA) phenograms and a neighbor joining (NJ) trees were constructed for the individuals and populations using Jaccard’s similarity coefficient. The dendrogram clearly indicated four distinct groups/populations based on the area of origin. The principal coordinates (PCO) analysis also recovered UPGMA and neighbor joining tree groups, although Amhara region white lupine were intermixed with each other. The genetic diversity among white lupine population considered in the present study indicated that Merawi was the highest (0.223) followed by Addis Kidam, Sekela and Wembera with genetic diversity of 0.198, 0.189 and 0.167, respectively. Generally, Amhara region white lupine (0.203) population shows higher genetic diversity than white lupine population of B-Gumuz region (0.167). Analysis of molecular variance (AMOVA) in both grouping and without grouping revealed larger genetic diversity within the populations (74.6%) than among populations (25.4%). Shannon’s diversity index also confirmed the existence of higher genetic diversity in Amhara region lupine populations than in Benishangul-Gumuz. Furthermore AMOVA demonstrated highly significant (P = 0.00) genetic differences among populations within groups, among groups and within populations. Of the total variation, 64.64% was attributable to within populations, 27.23% to among groups and the least, 8.13% to among populations within groups. Generally, on the basis of samples of 39 bands in the four populations, ISSR was able to reveal moderate to high levels of genetic diversity within and among Ethiopian white lupine population.Keywords: Amhara, Benishangul - Gumuz, Ethiopia, genetic diversity, ISSR, white lupine.Abbreviation: ISSR, Inter simple sequence repeats; UPGMA, unweighted pair- group method with arithmetic average; NJ, neighbor joining; PCO, principal coordinates; AMOVA, analysis of molecular variance; RAPD, random amplified polymorphic DNA; AFLP, amplified fragment length polymorphism

    Diversity of Lactase Persistence Alleles in Ethiopia:Signature of a Soft Selective Sweep

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    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (-13910(∗)T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene LCT is responsible for lactase persistence and appears to have been under strong directional selection in the last 5,000 years, evidenced by the widespread occurrence of this allele on an extended haplotype. In Africa and the Middle East, the situation is more complicated and at least three other alleles (-13907(∗)G, rs41525747; -13915(∗)G, rs41380347; -14010(∗)C, rs145946881) in the same LCT enhancer region can cause continued lactase expression. Here we examine the LCT enhancer sequence in a large lactose-tolerance-tested Ethiopian cohort of more than 350 individuals. We show that a further SNP, -14009T>G (ss 820486563), is significantly associated with lactose-digester status, and in vitro functional tests confirm that the -14009(∗)G allele also increases expression of an LCT promoter construct. The derived alleles in the LCT enhancer region are spread through several ethnic groups, and we report a greater genetic diversity in lactose digesters than in nondigesters. By examining flanking markers to control for the effects of mutation and demography, we further describe, from empirical evidence, the signature of a soft selective sweep

    Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene

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    MYH9 has been proposed as a major genetic risk locus for a spectrum of non-diabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. We also show that the distribution of these risk variants in African populations is consistent with the pattern of African ancestry ESKD risk previously attributed to the MYH9 gene. Additional associations were also found among other members of the APOL gene family, and we propose that ESKD risk is caused by western African variants in members of the APOL gene family, which evolved to confer protection against pathogens, such as Trypanosoma.Comment: 25 pages, 6 figure

    Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

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    BackgroundDisorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021.MethodsWe estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined.FindingsGlobally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer.InterpretationAs the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed
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