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Two problematic human polymorphic Alu insertions
Author(s) -
Luis Javier R.,
Terreros Maria C.,
Martinez Laisel,
Rojas Dina,
Herrera Rene J.
Publication year - 2003
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.200305451
Subject(s) - locus (genetics) , genetics , alu element , amplicon , biology , pseudoautosomal region , genbank , y chromosome , chromosome , gene , polymerase chain reaction , human genome , genome
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.