Two highly polymorphic CA repeats have been identified in the Menkes gene (ATP7A). These repeats should be useful for prenatal diagnosis and carrier detection in families with Menkes disease and X-linked cutis laxa. The observed heterozygosity for these two repeats was 0.778 and 0.60 in Centre d'Etude du Polymorphisme Humaine (CEPH) families.
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Plant 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.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFAsian Pac J Cancer Prev
January 2025
Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran.
Background: LIN28, a highly conserved RNA-binding protein, regulate a wide variety of post-transcriptional cellular processes. The current study aimed to identify genetic variants of five single nucleotide polymorphisms (SNPs) in the LIN28B gene (rs221634, rs22163, rs314276, rs9404590, and rs12194974) and their association with Breast cancer.
Method: 220 patients and 230 controls were genotyped by the RFLP assay for Lin28B gene variants.
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