The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of the children were dystrophic. Plasma and CSF lactate levels were normal, but the activities of mitochondrial complex I and IV were markedly decreased. Using linkage analysis in the family, followed by whole exome sequencing of a single patient, we identified a pathogenic mutation in the AIFM1 gene which segregated with the disease state and was absent in 86 anonymous controls. This is the second report of a mutation in the AIFM1 gene, extending the clinical spectrum to include prenatal ventriculomegaly and underscores the importance of AIF for complex I assembly. In summary, linkage analysis followed by exome sequencing of a single patient is a cost-effective approach for the identification of disease causing mutations in small non-consanguineous families.
Mate selection plays an important role in breeding programs. The Usefulness Criterion was proposed to improve mate selection, combining information on both the mean and standard deviation of the potential offspring of a cross, particularly in clonally propagated species where large family sizes are possible. Predicting the mean value of a cross is generally easier than predicting the standard deviation, especially in outbred species when the linkage of alleles is unknown and phasing is required.
We have identified a unique genetic locus for seed shattering in Italian ryegrass that has an exceedingly large effect and shows partial dominance for reduced seed shattering. Genetic improvement of seed retention in forage grasses can contribute to improving their commercial seed production. The objective of this study was to identify the genetic loci responsible for seed shattering in Italian ryegrass (Lolium multiflorum Lam.
Background: Constipation is a common complication in type 2 diabetes mellitus (T2DM), yet its impact on mortality remains unclear. This study aimed to investigate the association between constipation and all-cause mortality in patients with T2DM.
Methods: We conducted a retrospective cohort study using data from the National Health and Nutrition Examination Survey (NHANES) 2005-2010.
Objective: This study aimed to explore hospice caregivers' downward referral decision-making experiences and barriers under the triadic linkage model in China and to analyze the deeper social dynamics of hospice referral choices.
Methods: Semi-structured interviews were conducted with caregivers handling hospice referrals from two primary hospice agencies in Nanjing, China. The themes were analyzed and summarized using the Colaizzi 7-step analysis.
Key Laboratory of Soybean Molecular Design Breeding, National Key Laboratory of Black Soils Conservation and Utilization, Northeast Institute of Geography and Agroecology, Chinese Academy of Sciences, Changchun, 130102 China.
Unlabelled: Seed size is an economically important trait that directly determines the seed yield in soybean. In the current investigation, we used an integrated strategy of linkage mapping, association mapping, haplotype analysis and candidate gene analysis to determine the genetic makeup of four seed size-related traits viz., 100-seed weight (HSW), seed area (SA), seed length (SL), and seed width (SW) in soybean.
