Two problematic human polymorphic Alu insertions

Javier R. Luis, Maria C. Terreros, Laisel Martinez, Dina Rojas, Rene J. Herrera

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Analysis of two previously described polymorphic Alu insertions (Sb19.3 and NBC3) in world-wide human populations generated genotypic frequencies grossly in violation of Hardy-Weinberg equilibrium expectations. GenBank searches at the National Center for Biotechnology Information (NCBI) and sequencing analyses revealed that samples homozygous for the Sb19.3 Alu insertion amplify a band indistinguishable in size to the lack of insertion amplicon, corresponding to a paralogous locus on chromosome 4. This locus displays a very similar sequence (84%) to that flanking the Sb19.3 Alu insertion located at chromosome 19. Moreover, we have determined that NBC3, a different Alu insertion, is not located in the pseudoautosomal region of the Y-chromosome, as previously reported, but in position Yq11.2. Also, the band that mimics the lack of insertion amplicon corresponds to a paralogous locus located at chromosome X with a similarity of 92% to the sequence flanking the NBC3 Alu insertion. Finally, the utilization of newly designed primers avoided amplification from the paralogous loci and allowed a reliable assignation of genotypes for both loci. Unlike previously reported, using our new primers the Y-specific locus NBC3 was found not to be polymorphic in the populations analyzed.

Original languageEnglish (US)
Pages (from-to)2290-2294
Number of pages5
JournalELECTROPHORESIS
Volume24
Issue number14
DOIs
StatePublished - Jul 2003
Externally publishedYes

Keywords

  • Human evolution
  • Paralogous loci
  • Polymerase chain reaction
  • Polymorphic Alu insertions

ASJC Scopus subject areas

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry

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