Identification and molecular characterisation of an AMEL-X null allele due to an Alu insertion
2018; Elsevier BV; Volume: 38; Linguagem: Inglês
10.1016/j.fsigen.2018.10.020
ISSN1878-0326
AutoresEugenia D’Atanasio, M. Di Bonito, Giuseppe Iacovacci, Andrea Berti, Beniamino Trombetta, Fulvio Cruciani,
Tópico(s)Bone and Dental Protein Studies
ResumoThe amelogenin gene is located on the sex specific region of both the human X (AMEL-X) and Y (AMEL-Y) chromosomes. The two gametologous loci slightly differ in size and sequence allowing to use the AMEL locus as a sex-typing marker in most forensic STR kits [ [1] Akane A. Sex determination by PCR analysis of the X-Y amelogenin Gene. Forensic DNA Profiling Protoc. Humana Press, New Jersey1998: 245-250https://doi.org/10.1385/0-89603-443-7:245 Crossref Scopus (14) Google Scholar ]. Several studies reported null alleles at the AMEL-Y [ 2 Steinlechner M. Berger B. Niederstätter H. Parson W. Rare failures in the amelogenin sex test. Int. J. Legal Med. 2002; 116: 117-120 Crossref PubMed Scopus (112) Google Scholar , 3 Lattanzi W. Di Giacomo M.C. Lenato G.M. Chimienti G. Voglino G. Resta N. Pepe G. Guanti G. A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum. Genet. 2005; 116: 395-401https://doi.org/10.1007/s00439-004-1238-z Crossref PubMed Scopus (73) Google Scholar , 4 Cadenas A.M. Regueiro M. Gayden T. Singh N. Zhivotovsky L.A. Underhill P.A. Herrera R.J. Male amelogenin dropouts: phylogenetic context, origins and implications. Forensic Sci. Int. 2007; 166: 155-163https://doi.org/10.1016/j.forsciint.2006.05.002 Crossref PubMed Scopus (48) Google Scholar , 5 Chang Y.M. Perumal R. Keat P.Y. Yong R.Y.Y. Kuehn D.L.C. Burgoyne L. A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Yp11.2 (DYS458-MSY1-AMEL-Y) deletion. Forensic Sci. Int. 2007; 166: 115-120https://doi.org/10.1016/J.FORSCIINT.2006.04.013 Crossref PubMed Scopus (0) Google Scholar , 6 Yong R.Y.Y. Gan L.S.H. Chang Y.M. Yap E.P.H. Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations. Hum. Genet. 2007; 122: 237-249https://doi.org/10.1007/s00439-007-0389-0 Crossref PubMed Scopus (28) Google Scholar , 7 Turrina S. Filippini G. Voglino G. De Leo D. Two additional reports of deletion on the short arm of the Y chromosome. Forensic Sci. Int. Genet. 2011; 5: 242-246https://doi.org/10.1016/j.fsigen.2010.10.015 Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar , 8 Ou X. Chen W. Chen H. Zhao F. Zheng J. Tong D. Chen Y. Chen A. Sun H. Null alleles of the X and y chromosomal amelogenin gene in a Chinese population. Int. J. Legal Med. 2012; 126: 513-518https://doi.org/10.1007/s00414-011-0594-1 Crossref PubMed Scopus (30) Google Scholar , 9 Chen W. Wu W. Cheng J. Zhang Y. Chen Y. Sun H. Detection of the deletion on Yp11.2 in a Chinese population. Forensic Sci. Int. Genet. 2014; 8: 73-79https://doi.org/10.1016/j.fsigen.2013.07.003 Abstract Full Text Full Text PDF PubMed Scopus (17) Google Scholar ] and AMEL-X locus [ 10 Shewale J. Richey S. Sinha S. Anomalous amplification of the amelogenin locus typed by AmpFLSTR® profiler PlusTM amplification kit. Forensic Sci. Commun. 2000; 2 Google Scholar , 11 Shadrach B. Commane M. Hren C. Warshawsky I. A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J. Mol. Diagn. 2004; 6: 401-405https://doi.org/10.1016/S1525-1578(10)60538-7 Abstract Full Text Full Text PDF PubMed Scopus (56) Google Scholar , 12 Alves C. Coelho M. Rocha J. Amorim A. The Amelogenin locus displays a high frequency of X homologue failures in São Tomé Island (West Africa). Int. Congr. Ser. 2006; 1288: 271-273https://doi.org/10.1016/j.ics.2005.10.036 Crossref Scopus (15) Google Scholar , 13 Caratti S. Voglino G. Cirigliano V. Ghidini A. Taulli R. Torre C. Robino C. Amplification failure of the amelogenin gene (AMELX) caused by a primer binding site mutation. Prenat. Diagn. 2009; 29: 1180-1182https://doi.org/10.1002/pd.2389 Crossref PubMed Scopus (13) Google Scholar , 14 Maciejewska A. Pawłowski R. A rare mutation in the primer binding region of the Amelogenin X homologue gene. Forensic Sci. Int. Genet. 2009; 3: 265-267https://doi.org/10.1016/J.FSIGEN.2009.01.010 Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar , 15 Westen A.A. Kraaijenbrink T. Robles De Medina E.A. Harteveld J. Willemse P. Zuniga S.B. Van Der Gaag K.J. Weiler N.E.C.C. Warnaar J. Kayser M. Sijen T. De Knijff P. Comparing six commercial autosomal STR kits in a large Dutch population sample. Forensic Sci. Int. Genet. 2014; 10: 55-63https://doi.org/10.1016/j.fsigen.2014.01.008 Abstract Full Text Full Text PDF PubMed Scopus (81) Google Scholar , 16 Borovko S. Shyla A. Korban V. Borovko A. Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis, Forensic Sci. Int. Genet. 2015; 15: 98-104https://doi.org/10.1016/j.fsigen.2014.10.014 Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar ]. It is known that most Y-specific amplification failures of the amelogenin marker are due to large deletions spanning this locus [ 4 Cadenas A.M. Regueiro M. Gayden T. Singh N. Zhivotovsky L.A. Underhill P.A. Herrera R.J. Male amelogenin dropouts: phylogenetic context, origins and implications. Forensic Sci. Int. 2007; 166: 155-163https://doi.org/10.1016/j.forsciint.2006.05.002 Crossref PubMed Scopus (48) Google Scholar , 5 Chang Y.M. Perumal R. Keat P.Y. Yong R.Y.Y. Kuehn D.L.C. Burgoyne L. A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Yp11.2 (DYS458-MSY1-AMEL-Y) deletion. Forensic Sci. Int. 2007; 166: 115-120https://doi.org/10.1016/J.FORSCIINT.2006.04.013 Crossref PubMed Scopus (0) Google Scholar , 6 Yong R.Y.Y. Gan L.S.H. Chang Y.M. Yap E.P.H. Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations. Hum. Genet. 2007; 122: 237-249https://doi.org/10.1007/s00439-007-0389-0 Crossref PubMed Scopus (28) Google Scholar , 7 Turrina S. Filippini G. Voglino G. De Leo D. Two additional reports of deletion on the short arm of the Y chromosome. Forensic Sci. Int. Genet. 2011; 5: 242-246https://doi.org/10.1016/j.fsigen.2010.10.015 Abstract Full Text Full Text PDF PubMed Scopus (22) Google Scholar , [9] Chen W. Wu W. Cheng J. Zhang Y. Chen Y. Sun H. Detection of the deletion on Yp11.2 in a Chinese population. Forensic Sci. Int. Genet. 2014; 8: 73-79https://doi.org/10.1016/j.fsigen.2013.07.003 Abstract Full Text Full Text PDF PubMed Scopus (17) Google Scholar , 16 Borovko S. Shyla A. Korban V. Borovko A. Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis, Forensic Sci. Int. Genet. 2015; 15: 98-104https://doi.org/10.1016/j.fsigen.2014.10.014 Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar , 17 Jobling M.A. Lo I.C.C. Turner D.J. Bowden G.R. Lee A.C. Xue Y. Carvalho-Silva D. Hurles M.E. Adams S.M. Chang Y.M. Kraaijenbrink T. Henke J. Guanti G. McKeown B. van Oorschot R.A.H. Mitchell R.J. de Knijff P. Tyler-Smith C. Parkin E.J. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum. Mol. Genet. 2007; 16: 307-316https://doi.org/10.1093/hmg/ddl465 Crossref PubMed Scopus (102) Google Scholar , 18 Butler E. Li R. Genetic markers for sex identification in forensic DNA analysis. J. Forensic Investig. 2014; 02: 10https://doi.org/10.13188/2330-0396.1000013 Crossref Google Scholar ], while the X-specific dropout is less common and usually determined by point mutations at the primer binding sites [ 10 Shewale J. Richey S. Sinha S. Anomalous amplification of the amelogenin locus typed by AmpFLSTR® profiler PlusTM amplification kit. Forensic Sci. Commun. 2000; 2 Google Scholar , 11 Shadrach B. Commane M. Hren C. Warshawsky I. A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J. Mol. Diagn. 2004; 6: 401-405https://doi.org/10.1016/S1525-1578(10)60538-7 Abstract Full Text Full Text PDF PubMed Scopus (56) Google Scholar , 12 Alves C. Coelho M. Rocha J. Amorim A. The Amelogenin locus displays a high frequency of X homologue failures in São Tomé Island (West Africa). Int. Congr. Ser. 2006; 1288: 271-273https://doi.org/10.1016/j.ics.2005.10.036 Crossref Scopus (15) Google Scholar , 13 Caratti S. Voglino G. Cirigliano V. Ghidini A. Taulli R. Torre C. Robino C. Amplification failure of the amelogenin gene (AMELX) caused by a primer binding site mutation. Prenat. Diagn. 2009; 29: 1180-1182https://doi.org/10.1002/pd.2389 Crossref PubMed Scopus (13) Google Scholar , 14 Maciejewska A. Pawłowski R. A rare mutation in the primer binding region of the Amelogenin X homologue gene. Forensic Sci. Int. Genet. 2009; 3: 265-267https://doi.org/10.1016/J.FSIGEN.2009.01.010 Abstract Full Text Full Text PDF PubMed Scopus (0) Google Scholar , 15 Westen A.A. Kraaijenbrink T. Robles De Medina E.A. Harteveld J. Willemse P. Zuniga S.B. Van Der Gaag K.J. Weiler N.E.C.C. Warnaar J. Kayser M. Sijen T. De Knijff P. Comparing six commercial autosomal STR kits in a large Dutch population sample. Forensic Sci. Int. Genet. 2014; 10: 55-63https://doi.org/10.1016/j.fsigen.2014.01.008 Abstract Full Text Full Text PDF PubMed Scopus (81) Google Scholar , 16 Borovko S. Shyla A. Korban V. Borovko A. Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis, Forensic Sci. Int. Genet. 2015; 15: 98-104https://doi.org/10.1016/j.fsigen.2014.10.014 Abstract Full Text Full Text PDF PubMed Scopus (21) Google Scholar ]. Contrary to the AMEL-Y amplification failure, the AMEL-X dropout does not lead to incorrect sex typing. However, the absence of the AMEL-X product can cause a misinterpretation of the gender of individuals involved in DNA mixtures [ [18] Butler E. Li R. Genetic markers for sex identification in forensic DNA analysis. J. Forensic Investig. 2014; 02: 10https://doi.org/10.13188/2330-0396.1000013 Crossref Google Scholar ]. In this study, we report the molecular characterisation of an AMEL-X null allele caused by an Alu insertion.
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