Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Incomplete Dominance01:43

Incomplete Dominance

30.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Expression of tissue factor pathway inhibitor-2 in gastric stromal tumor and its clinical significance.

Experimental and therapeutic medicine·2014
Same author

Facile access to cytocompatible multicompartment micelles with adjustable Janus-cores from A-block-B-graft-C terpolymers prepared by combination of ROP and ATRP.

Colloids and surfaces. B, Biointerfaces·2014
Same author

Functional layers for Zn(II) ion detection: from molecular design to optical fiber sensors.

The journal of physical chemistry. B·2013
Same author

Expression of the 78 kD glucose-regulated protein is induced by endoplasmic reticulum stress in the development of hepatopulmonary syndrome.

Gene·2013
Same author

Multi-nuclear silver(I) and copper(I) complexes: a novel bonding mode for bispyridylpyrrolides.

Dalton transactions (Cambridge, England : 2003)·2013
Same author

Transcriptome profilings of female Schistosoma japonicum reveal significant differential expression of genes after pairing.

Parasitology research·2013

Related Experiment Video

Updated: Feb 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Inconsistent genotyping call at DYS389 locus and implications for interpretation.

Zhiyong Liu1,2, Dongtao Jia3, Jingjing Zhang4

  • 1CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, NO.1 Beichen West Road, Chaoyang District, 100101, Beijing, People's Republic of China.

International Journal of Legal Medicine
|November 28, 2017
PubMed
Summary

Investigating Y-STR genotyping discrepancies revealed rare mutations in the DYS389I marker. This finding is crucial for accurate interpretation in forensic DNA analysis, particularly in male lineage and mixture cases.

Keywords:
DYS389GenotypingMutationSequencingY-STR

More Related Videos

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.9K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Related Experiment Videos

Last Updated: Feb 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.9K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.6K

Area of Science:

  • Forensic genetics
  • Molecular biology
  • Population genetics

Background:

  • Y-chromosome short tandem repeats (STRs) are vital forensic tools for male identification, mixture analysis, and paternal lineage investigations.
  • Commercial multiplex kits have advanced Y-STR analysis, but mutations can cause abnormal genotyping profiles.

Purpose of the Study:

  • To investigate the cause of a single-allele shift observed at the DYS389I marker between two commercial Y-STR kits.
  • To elucidate the molecular basis of Y-STR genotyping discordance in specific forensic samples.

Main Methods:

  • Comparative analysis of DYS389I genotyping results from AmpFlSTR® Yfiler® and Yfiler® Plus kits.
  • Further investigation using three additional multiplex kits, Sanger sequencing, and next-generation sequencing.
  • Analysis of eight unrelated Chinese male individuals exhibiting the discordance.

Main Results:

  • A consistent single-allele shift (five nucleotides) at DYS389I was observed between the two kits, while DYS389II remained concordant.
  • The discordance was attributed to a rare mutation involving two adjacent single nucleotide polymorphisms (SNPs) within the DYS389I target region.
  • Sequencing confirmed the presence of these rare SNPs as the cause of the genotyping difference.

Conclusions:

  • Rare mutations, specifically adjacent SNPs, can lead to Y-STR genotyping discordances between different commercial kits.
  • Understanding the molecular basis of these mutations is essential for accurate interpretation of abnormal Y-STR profiles in forensic casework.
  • This study provides valuable insights for enhancing the reliability of Y-STR analysis in forensic practice.