| Autor: |
Luis JR; Department of Biological Sciences, Florida International University, Miami, FL, USA., Terreros MC, Martinez L, Rojas D, Herrera RJ |
| Jazyk: |
angličtina |
| Zdroj: |
Electrophoresis [Electrophoresis] 2003 Jul; Vol. 24 (14), pp. 2290-4. |
| DOI: |
10.1002/elps.200305451 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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