Allele distributions for 13 tetrameric short tandem repeat (STR) loci, CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11, were determined in African American, United States Caucasian, Hispanic, Bahamian, Jamaican, and Trinidadian sample populations. There was little evidence for departures from Hardy-Weinberg expectations (HWE) in any of the populations. Based on the exact test, the loci that departed significantly from HWE are: D21S11 (p = 0.010, Bahamians); CSF1PO (p = 0.014, Trinidadians); TPOX (p = 0.011, Jamaicans and p = 0.035, U.S. Caucasians); and D16S539 (p = 0.043, Bahamians). After employing the Bonferroni correction for the number of loci analyzed (i.e., 13 loci per database), these observations are not likely to be significant. There is little evidence for association of alleles between the loci in these databases. The allelic frequency data are similar to other comparable data within the same major population group.
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Cell Biosci
January 2025
Department of Pathology, Xinqiao Hospital, Third Military Medical University, 183 Xinqiao Street, Shapingba District, Chongqing, 400037, PR China.
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January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFGene
January 2025
College of Grassland Science and Technology, Sichuan Agricultural University, Chengdu 611130 China. Electronic address:
White clover (Trifolium repens L.) is a high-quality leguminous forage, but its short rooting habit, poor transpiration tolerance, and drought tolerance, have become a key factor restricting its growth and cultivation. 1R-MYB transcription factors (TFs) are a significant subfamily of TFs in plants, playing a vital role in regulating plant responses to drought stress, however, knowledge about the role of 1R-MYB transcription factors in white clover is still limited.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
Department of Genetics, Genomics & Cancer Sciences, University of Leicester, University Road, Leicester, UK. Electronic address:
Kinship determination is a valuable tool in forensic genetics, with applications including familial searching, disaster victim identification, and investigative genetic genealogy. Conventional typing of small numbers of autosomal short tandem repeats (STRs) confidently identifies only first-degree relatives. Massively parallel sequencing (MPS) can access more STRs and resolve alleles identical by length but differing in sequence (isoalleles), which may increase the power of kinship estimation, particularly when combined with additional sequenced single nucleotide polymorphism (SNP) loci, as in the ForenSeq DNA Signature Prep kit.
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Ifremer, ASIM, La Tremblade, France.
Since the 1990s, the Pacific oyster has faced significant mortality, which has been associated with the detection of the Ostreid Herpesvirus type 1 (OsHV-1). Due to the complex genomic architecture and the presence of multiple genomic isomers, short-read sequencing using Illumina method struggles to accurately assemble tandem and repeat regions and to identify and characterize large structural variations in the OsHV-1 genome. Third-generation sequencing technologies, as long-read real-time nanopore sequencing from Oxford Nanopore Technologies (ONT), offer new possibilities for OsHV-1 whole-genome analysis.
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