Low frequency genetic events found in filial relationships studies with DNA markers

Authors

  • Yadira Hernández Pérez Centro Nacional de Genética Médica
  • Teresa Collazo Mesa Centro Nacional de Genética Médica https://orcid.org/0000-0002-3984-9189
  • Manuel Gómez Martínez Centro Nacional de Genética Médica
  • Ruth Juárez Fontanet Instituto de Medicina Legal. La Habana
  • Dodany Machado Mendoza Instituto de Medicina Legal. La Habana
  • Lainet Merencio Santos Centro Nacional de Genética Médica
  • Raúl Ferreira Capote Centro Nacional de Genética Médica

Keywords:

mutation, tri-allelic pattern, off-ladder allele, STR.

Abstract

Introduction: In filial relationship studies, the Short Tandem Repeats (STR)type DNA markers are widely used, very informative due to their genetic variability.

Analysis and synthesis of the information: During the realization of STR markers studies, carried out by the National Center of Medical Genetics with the National Institute of Legal Medicine, some infrequent events that are presented in this work were identified, being them: germline mutation, allele outside the expected range and triallelic pattern.

Conclusions: With the presentation of three genetic events, it was demonstrated the great complexity that studies of filial relationship can present and the importance of taking them into account when issuing the results.

 

Downloads

Download data is not yet available.

References

1. American Association of Blood Banks. 2003 annual report. Disponible en: https://www.aabb.org/About_the_AABB/Stds_and_Accred/ptannrpt03.pdf,Appendix

2. Shriver M, Jin DL, Chakraborty R, Boerwinkle E. VNTR allele Frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics. 1993 Jul; 134(3):983–93.

3. Butler JM. Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing. J Forensic Sci. 2006 March,51(2):253. 2006. Disponible en: www.blackwell-synergy.com

4. Clayton TM, Guest JL, Urquhart AJ y Gill PD. A genetic basis for anomalous band patterns encountered during DNA STR profiling. J Forensic Sci. 2004;49(6):1207–14.

5. National Institute of Standards and Technology, USA. Short Tandem Repeats DNA internet Database (STRBase). [acceso: 02/05/2019].Disponible en: https://strbase.nist.gov/

6. Chakhparonian M y Wellinger RJ. Telomere maintenance and DNA replication: how closely are these two connected? Trends Genet 2003;19(8):439–46.

7. Louis EJ, Vershinin AV. Chromosome ends: different sequences may provide conserved functions. BioEssays 2005;27:685–97.

8. Lane AB. The nature of tri-allelic TPOX genotypes in African populations. Forensic Science International: Genetics. 2008 Mar;2(2):134-7.

9. Li H, Li X, Lan F, Du L, Lu J, He T, et al. Analysis of genetic relationship in a tri-allelic case. Chinese J Forensic Med. 2018;28:524–6

10. Liu Z, Yang Y, Tong J, Zhai X. Triallelic STR loci in routine forensic analysis.Forensic Sci Technol. 2018;43:148–51.

11. Yang Q, Liu B, Shao C, Zhou Y, Yining Y. Characterization of the extra copy of TPOX locus with tri-allelic pattern. BMC Genetics. 2019;20:18.

Published

2022-06-29

How to Cite

1.
Hernández Pérez Y, Collazo Mesa T, Gómez Martínez M, Juárez Fontanet R, Machado Mendoza D, Merencio Santos L, et al. Low frequency genetic events found in filial relationships studies with DNA markers. revgencom [Internet]. 2022 Jun. 29 [cited 2025 Oct. 8];13(3). Available from: https://revgenetica.sld.cu/index.php/gen/article/view/113

Issue

Section

Comunicaciones breves