Microdeletion at 8q24.13 rather than multistep microsatellite mutation resulting in the genetic inconsistency at the D8S1179 locus in a true trio.
Allelic dropout
D8S1179
Genetic inconsistency
Germline mutation
Microdeletion
SNP
STR
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:
Jul 2019
Jul 2019
Historique:
received:
03
05
2018
accepted:
17
07
2018
pubmed:
27
7
2018
medline:
3
1
2020
entrez:
27
7
2018
Statut:
ppublish
Résumé
When using microsatellite loci for DNA paternity testing, genetic inconsistencies sometimes occur in true trios and duos and may be erroneously attributed to germline mutations of microsatellite alleles. Here, we reported a typical case and discussed the issue of how to find out the cause of a genetic inconsistency. In our case, a genetic inconsistency in a true trio was observed at the D8S1179 locus, where the father has only allele 10 as compared to only allele 16 of his son. A set of tests were then performed. The results showed that the inconsistency was not result from the germline mutation of allele 10 to allele 16, or from the presence of null alleles due to primer binding site mutations, but from the microdeletion at 8q24.13, about 2.99 to 49.76 kb, detected in both the father and his son, which revealed by deletion mapping using short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). In conclusion, genetic inconsistencies observed in true trios or duos cannot be rashly attributed to germline STR mutations, especially multistep mutations, in the absence of verification or specification; otherwise, the reliability of the genetic proofs established will be challenged.
Identifiants
pubmed: 30046885
doi: 10.1007/s00414-018-1900-y
pii: 10.1007/s00414-018-1900-y
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
999-1006Subventions
Organisme : National Natural Science Foundation of China
ID : 81373250
Organisme : Fundamental Research Funds for the Central Universities, HUST
ID : 2016YXZD025
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