Aim: To present a compendium of off-ladder alleles and other genotyping irregularities relating to rare/unexpected population genetic variation, observed in a large short tandem repeat (STR) database from Bosnia and Serbia.
Methods: DNA was extracted from blood stain cards relating to reference samples from a population of 32800 individuals from Bosnia and Serbia, and typed using Promega's PowerPlex16 STR kit.
Results: There were 31 distinct off-ladder alleles were observed in 10 of the 15 STR loci amplified from the PowerPlex16 STR kit. Of these 31, 3 have not been previously reported. Furthermore, 16 instances of triallelic patterns were observed in 9 of the 15 loci. Primer binding site mismatches that affected amplification were observed in two loci, D5S818 and D8S1179.
Conclusion: Instances of deviations from manufacturer's allelic ladders should be expected and caution taken to properly designate the correct alleles in large DNA databases. Particular care should be taken in kinship matching or paternity cases as incorrect designation of any of these deviations from allelic ladders could lead to false exclusions.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2080559 | PMC |
Publication Analysis
Top Keywords
Similar Publications
[Association of the 5HTTLPR/rs25531 Genetic Variant with Depression in a Cohort of Primary Care Patients].
Rev Med Chil
May 2024
Departamento de Farmacología, Facultad de Ciencias Biológicas, Universidad de Concepción, Concepción, Chile.
Unlabelled: Serotonin plays a central role in mood regulation and the development of depressive disorders. The serotonin transporter, the primary regulator of serotonin levels, presents genetic variants that affect its functionality.
Aim: To study whether functional bi-allelic 5-HTTLPR or tri-allelic 5-HTTLPR/rs25531 polymorphisms in the serotonin transporter gene are associated with the diagnosis of depression.
Genetic Analysis of Vanishing Twin Syndrome Using Next-Generation Sequencing and Short Tandem Repeat Analysis: A Case Report and Literature Review.
J Investig Med High Impact Case Rep
December 2024
Osaka University, Japan.
Article Synopsis
- Vanishing Twin Syndrome (VTS) is when one fetus in a multiple pregnancy disappears, often discovered through ultrasounds, but its genetic causes are not well understood.
- A case study of a 39-year-old woman who conceived twins via IVF showed that one twin's heartbeat stopped at 11 weeks, confirming VTS while the other developed normally.
- Genetic testing revealed that both fetuses were identical twins with a normal genetic make-up, but the vanished twin exhibited a unique genetic pattern, demonstrating the potential for genetic investigation in cases of VTS.
A rare case of type II tri-allelic inheritance at vWA, SE33, D8S1179, and D13S317 loci demonstrated by STR analysis in paternity testing.
Forensic Sci Med Pathol
February 2024
Directorate of Forensic Science Laboratory, Mumbai, Maharashtra, India.
Short tandem repeat (STR) typing has been regularly used in paternity disputes and forensic human identification linked caseworks. Occasionally, forensic scientists come across aberrant allele patterns during STR typing because of mutations, genetic variations, and other abnormalities. The tri-allelic pattern of STR is rare, particularly, the case where this pattern exists at 4 loci.
View Article and Find Full Text PDFAnalysis of data and common mutations encountered during routine parentage testing in Zimbabwe.
Sci Rep
January 2024
Forensic Science Unit, Department of Genomic Medicine, African Institute of Biomedical Science and Technology (AiBST), 911 Boronia Township, Beatrice, Zimbabwe.
We analyzed parentage data collected over a ten-year period in a Zimbabwean DNA testing laboratory. Parentage case types, prevalence, exclusion data, mutations rates and observed genotyping irregularities were analyzed. We report analysis results from 1303 cases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!