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Tests for segregation distortion in tetraploid F1 populations.
Theor Appl Genet
January 2025
Horticultural Sciences Department, University of Florida, Gainesville, FL, 32611, USA.
In tetraploid F1 populations, traditional segregation distortion tests often inaccurately flag SNPs due to ignoring polyploid meiosis processes and genotype uncertainty. We develop tests that account for these factors. Genotype data from tetraploid F1 populations are often collected in breeding programs for mapping and genomic selection purposes.
View Article and Find Full Text PDFTriple mosaic variants of PURA in a patient with multiple congenital anomalies.
J Hum Genet
January 2025
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a neurodevelopmental syndrome (OMIM# 616158). Whole-exome sequencing identified three somatic PURA variants in our case with a similar neurodevelopmental syndrome: NM_005859.
View Article and Find Full Text PDFBackground: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.
View Article and Find Full Text PDFJérôme Lejeune (1926-1994): A Pioneer in Uncovering the Connection Between Congenital Conditions and Chromosomal Anomalies.
Cureus
December 2024
Healthcare Surveillance and Bioethics, Università Cattolica del Sacro Cuore, Rome, ITA.
Jérôme Lejeune was a French physician and geneticist whose crucial contribution to the field of medicine was the discovery of an extra copy of chromosome 21 in those presenting with a range of physical and developmental anomalies known as Down syndrome. From this discovery on, the condition had a new name (trisomy 21) and a specific scientific explanation that left no room for discrimination against those affected and their parents. Lejeune promoted the idea that a medical doctor should hate the condition and love the patient: while working to find a cure for trisomy 21, Lejeune was also able to reassure his patients and their families and lead them out from under a long-standing stigma inflicted upon them.
View Article and Find Full Text PDFOligo-FISH barcode chromosome identification system provides novel insights into the natural chromosome aberrations propensity in the autotetraploid cultivated alfalfa.
Hortic Res
January 2025
Key Laboratory of Xinjiang Phytomedicine Resource and Utilization of Ministry of Education, Key Laboratory of Oasis Town and Mountain-basin System Ecology of Xinjiang Production and Construction Corps, College of Life Sciences, Shihezi University, Shihezi 832003, China.
Alfalfa is one of the most economically valuable forage crops in the world. However, molecular cytogenetic studies in alfalfa lag far behind other cash crops and have reached a bottleneck. Here, we developed a novel chromosome identification system by designing 21 oligo probes in specific regions of each chromosome, which can be used as a barcode to simultaneously distinguish all chromosomes in a cell.
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