We have determined Y-chromosomal DNA haplotypes in 73 infertile European males carrying Y microdeletions and compared them with the haplotypes of 299 infertile males lacking microdeletions. Chromosomes were typed with a set of 11 binary Y markers, which identified 8 haplogroups in the sample. Haplogroup frequencies were compared between 3 microdeletion classes and the non-deleted infertile males. Deletions arise on many different haplotypic backgrounds. No statistically significant differences in frequency were seen, although the small number of AZFa deletions lay predominantly on one branch of the Y haplotype tree.
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http://dx.doi.org/10.1007/BF03343792 | DOI Listing |
Forensic 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.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
NimaGen BV, Hogelandseweg 88, Nijmegen 6545 AB, the Netherlands.
Forensic science takes advantage of population variability in autosomal Short Tandem Repeat (STR) lengths to establish human identification. The most common method for DNA profiling by STR is based on PCR, where the highly polymorphic STR regions are amplified and analysed using Capillary Electrophoresis (CE) or Massively Parallel Sequencing (MPS). MPS determines not only the repeat length, but also the repeat structure and variations in the flanking regions, making this method superior in discriminatory power compared to CE.
View Article and Find Full Text PDFAlthough sex determination is a fundamental process in vertebrate development, it is very plastic. Diverse genes became major sex determinants in teleost fishes. Deciphering how individual sex-determining genes orchestrate sex determination can reveal new actors in sexual development.
View Article and Find Full Text PDFForensic Sci Int Genet
January 2025
Forensic DNA Division, National Forensic Service, Wonju, South Korea. Electronic address:
Y-chromosomal short tandem repeats (Y-STRs) at rapidly mutating (RM) loci have been suggested as tools for differentiating paternally related males. RMplex is a recently developed system that incorporates 26 RM loci and four fast-mutating (FM) loci, targeting 44 male-specific loci. Here, we evaluated the RMplex by estimating Y-STR mutation rates and the overall differentiation rates for 542 Korean father-son pairs, as well as the genetic population values for 409 unrelated males.
View Article and Find Full Text PDFInt J Legal Med
January 2025
Institute of Forensic and Anthropological Science, Seoul National University Medical Research Center, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Inferring the ancestral origin of DNA evidence recovered from crime scenes is crucial in forensic investigations, especially in the absence of a direct suspect match. Ancestry informative markers (AIMs) have been widely researched and commercially developed into panels targeting multiple continental regions. However, existing forensic ancestry inference panels typically group East Asian individuals into a homogenous category without further differentiation.
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