A cosmid library was constructed from genomic DNA of a human-mouse somatic cell hybrid containing an 11q-16q translocation chromosome as the only human DNA. Cosmids with human inserts were prehybridized with total human DNA and were screened to find probes that revealed highly polymorphic loci. From one such cosmid, CF33-79, a single-copy subclone was isolated which revealed an insertion/deletion polymorphism with at least 11 alleles and a PIC of 0.77. Using a somatic cell hybrid mapping panel, the subclone was mapped to chromosome 16. By in situ hybridization with the entire cosmid used as a probe, chromosomal localization was shown at 16q22----24.
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Mol Cell Proteomics
January 2025
Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Strasse 7, 72076 Tübingen, Germany. Electronic address:
Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
Key Laboratory of Forensic Genetics of Ministry of Public Security, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China; School of Forensic Medicine, Kunming Medical University, Kunming 650500, China. Electronic address:
DNA and RNA markers are significant in forensic practices, such as individual and body fluid identification. However, forensic DNA and RNA markers were separately analyzed in most forensic experiments, which resulted in large amounts of sample consumption, complex procedures, and weak inter-evidence correlation. While several integrated methods based on capillary electrophoresis and next-generation sequencing technologies were reported, integrated procedures were mostly on nucleic acid co-extraction, co-electrophoresis, or co-sequencing, and the number and type of markers co-tested were limited.
View Article and Find Full Text PDFPlant Reprod
January 2025
Department of Ecology and Evolutionary Biology, University of Colorado, 1900 Pleasant Street, Boulder, CO, 80309, USA.
Self-incompatibility decays with age in plants of Physalis acutifolia, and plants that have transitioned to selfing produce fewer seeds but with comparable viability. Self-compatibility in this system is closely related to flower size, which is in turn dependent on the direction of the cross, suggesting parental effects on both morphology and compatibility. The sharpleaf groundcherry, Physalis acutifolia, is polymorphic for self-compatibility, with naturally occurring self-incompatible (SI) and self-compatible (SC) populations.
View Article and Find Full Text PDFCurr Pain Headache Rep
January 2025
ImmGen EvSys Lab, BT-113 Department of Biotechnology, Berhampur University, Bhanja Bihar Berhampur, Berhampur, 760007, Odisha, India.
Background: Migraine is a highly prevalent and incapacitating neurological disorder mostly characterised by recurring attacks of moderate to severe throbbing and pulsating pain on one side of the head. The role of estrogen in migraine has been well documented. Although genetic variations in the ESR1 gene have been associated with an increased risk of developing migraine, the findings are inconsistent.
View Article and Find Full Text PDFSci Rep
January 2025
Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore (UOL), Lahore, Pakistan.
Highly variable response shown by individuals against mosquito-borne infections suggests that host genetic factors play an important role in determining mosquito-borne disease onset. Therefore, it is necessary to determine the genetic risk of these diseases in specific populations. The current study aimed to determine the percentage of individuals in the general population carrying mosquito-borne disease susceptibility and protection-related variants.
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