Genetic inconsistency at the D6S1043 locus caused by microdeletion at 6q15.
D6S1043 locus
Forensic material evidence
Genetic inconsistency
Microdeletion
Null allele
Journal
International journal of legal medicine
ISSN: 1437-1596
Titre abrégé: Int J Legal Med
Pays: Germany
ID NLM: 9101456
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
06
04
2023
accepted:
12
06
2023
medline:
14
8
2023
pubmed:
7
7
2023
entrez:
6
7
2023
Statut:
ppublish
Résumé
In the practice of parentage testing, short tandem repeat (STR) genetic inconsistencies occasionally occur and are usually treated as genetic mutations. However, they arise for various reasons. To elucidate the reasons for their occurrence, this study investigates a typical trio. For the D6S1043 locus, the genotype of the biological mother comprised the heterozygous alleles "7,20"; that of the child, allele 20; and that of the alleged father, a heterozygous allele "11,13," revealing a 7-step mutation. Different kits were first used to verify the data. The locus map, primers, and core sequences were then analyzed. Ultimately, the STR and single nucleotide polymorphisms of 6q were tested to determine the microdeletion range. The results revealed that this was indeed a true trio, and the underlying cause of the genetic inconsistency at this locus was a microdeletion of approximately 0.74-1.78 Mb in 6q15. Overall, genetic inconsistencies detected during practical work, and particularly rare multi-step mutations, cannot be directly identified as STR mutations. Different tools should be used to examine the causes of genetic inconsistencies from various perspectives and improve the effectiveness of genetic evidence.
Identifiants
pubmed: 37414920
doi: 10.1007/s00414-023-03044-8
pii: 10.1007/s00414-023-03044-8
doi:
Substances chimiques
DNA Primers
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1413-1419Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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