An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination

Annals of Human Biology

Volumn 33, Issue 2, 2006, Pages 227-240

  Mitchell, R J ^a   Kreskas, M ^a,b   Baxter, E ^a,b   Buffalino, L ^a   Van Oorschot, R A H ^b  

^a LA TROBE UNIVERSITY   (Australia)

^b Victoria Police Forensic Services Department   (Australia)

Author keywords

Amelogenin locus; Forensic; Null alleles; Sex typing; Y chromosome; Y microsatellite haplotypes

Indexed keywords

AMELOGENIN; AMELX PROTEIN, HUMAN; AMELY PROTEIN, HUMAN; DNA; ENAMEL PROTEIN; MICROSATELLITE DNA;

ALLELE; CHROMOSOME; DISEASE; DNA; FORENSIC SCIENCE; GENDER;

ARTICLE; AUSTRALIA; DNA FINGERPRINTING; ELECTROPHORESIS; FORENSIC MEDICINE; GENE DELETION; GENETIC MARKER; GENETICS; HAPLOTYPE; HUMAN; MALE; METHODOLOGY; POLYMERASE CHAIN REACTION; SEX DETERMINATION; Y CHROMOSOME;

AMELOGENIN; AUSTRALIA; CHROMOSOMES, HUMAN, Y; DENTAL ENAMEL PROTEINS; DNA; DNA FINGERPRINTING; ELECTROPHORESIS; FORENSIC MEDICINE; GENE DELETION; GENETIC MARKERS; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; SEX DETERMINATION (ANALYSIS);

AUSTRALASIA; AUSTRALIA;

EID: 33646821335     PISSN: 03014460     EISSN: 14645033     Source Type: Journal    
DOI: 10.1080/03014460600594620     Document Type: Article

References (40)

1. Akane A, Shiono H, Matsubara K, Nakahori Y, Seki S, Nagafuchi S, Yamada M, Nakagome Y. 1991. Sex identification of forensic specimens by polymerase chain reaction (PCR): Two alternative methods. Forensic Sci Int 49:81-88.
2. Akane A, Seki S, Shiono H, Nakamura H, Hasegawa M, Kagawa M, Matsurbara K, Nakahori Y, Nagafuchi S, Nakagome Y. 1992. Sex determination of forensic samples by dual PCR amplification of an X-Y homologous gene. Forensic Sci Int 52:143-148.
3. Alonso A, Andelinovic S, Martin P, Sutlovic D, Erceg I, Huffine E, Fernandez de Simon L, Albarran C, Definis Gojanovic M, Fernandez-Rodriguez A, et al. 2001. DNA typing from skeletal remains: Evaluation of multiplex and megaplex STR systems on DNA isolated from bone and teeth samples. Croat Med J 42:260-266.
4. Ayub Q, Mohyuddin A, Qamar R, Mazhar K, Zergal T, Mehdi SQ, Tyler-Smith C. 2000. Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res 28:e8.
5. Chang YM, Both K, Burgoyne LA. 2002. Genetic variation at three DYS-STR loci and amelogenin between the Australian caucasians and three Asian ethnic groups. J Forensic Sci 47:918-921.
6. Chang YM, Burgoyne LA, Both K. 2003. Higher failures of amelogenin sex test in an Indian population group. J Forensic Sci 48:1306-1313.
7. Corach D, Filgueira Risso L, Marino M, Penacino G, Sala A. 2001. Routine Y-STR typing in forensic casework. Forensic Sci Int 118:131-135.
8. Faerman M, Filon D, Kahila G, Greenblatt CL, Smith P, Oppenheim A. 1995. Sex identification of archaeological human remains based on amplification of the X and Y amelogenin genes. Gene 167:327-332.
9. Faerman M, Kahila G, Smith P, Greenblatt CL, Stager L, Filon D, Oppenheim A. 1997. DNA analysis reveals the sex of infanticide victims. Nature 385:212-213.
10. Fernandes S, Hueller K, Concalves J, Dukal H, Zeisler J, Rajpert De Meyts E, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. 2002. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Moil Hum Reprod 8:286-298.
11. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. 2004. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in haplogroup N. Am J Hum Genet 74:180-187.
12. Haas-Rochholz H, Weiler G. 1997. Additional primer sets for an amelogenin gene PCR-based DNA sex test. Int J Legal Med 110:312-315.
13. Hagelberg E, Sykes B, Hedges R. 1989. Ancient bone DNA amplified. Nature 342:485.
14. Harris WV. 1982. The theoretical possibility of extensive infanticide in the Graeco Roman world. Classical Quart 32:114-116.
15. Henke J, Henke L, Chatthopadhyay P, Kayser M, Dulmer M, Cleef S, Poche H, Felske-Zech H. 2001. Application of Y chromosomal STR haplotypes to forensic genetics. Croat Med J 42:292-297.
16. Holt CL, Buoncristiani M, Wallin JM, Nguyen T, Lazaruk KD, Walsh PS. 2002. TWGDAM validation of AmpFℓSTR™ PCR amplification kits for forensic DNA casework. J Forensic Sci 47:66-96.
17. Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, et al. 1997. Evaluation of Y-chromosomal STRs: A multicentre study. Int J Legal Med 110:125-133.
18. Krenke BE, Tereba A, Anderson SJ, Buel E, Culhane S, Finis CJ, Tomsey CS, Zachetti JM, Masibay A, Rabbach DR, Amiott EA. 2002. Validation of a 16-locus fluorescent multiplex system. J Forensic Sci 47:773-785.
19. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286.
20. Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML. 1989. Human and mouse amelogenin loci are the sex chromosomes. Genomics 4:162-168.
21. Lewis N. 1985. Life in Egypt under Roman rule. Oxford: Clarendon.
22. Masibay A, Mozer TJ, Sprecher C. 2000. Promega corporation reveals primer sequences in its testing kits. J Forensic Sci 45:1360-1362.
23. Matheson CD, Loy TH. 2001. Genetic sex identification of 9400 year-old human skull samples from Cayönü Tepesi, Turkey. J Archaeol Sci 28:569-575.
24. Michael A, Brauner P. 2004. Erroneous gender identification by the amelogenin sex test. J Forensic Sci 49:258-259.
25. Nakahori Y, Takenaka O, Nakagome Y. 1991. A human X-Y homologous region encodes 'amelogenin'. Genomics 9:264-269.
26. Roffey PE, Eckhoff CI, Kuhl JL. 2000. A rare mutation in the amelogenin gene and its potential investigative ramifications. J Forensic Sci 45:1016-1019.
27. Salido EC, Yen PH, Koprivnikar K, Yu L, Shapiro LJ. 1992. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 50:303-316.
28. Santos FR, Pandya A, Tyler-Smith C. 1998. Reliability of DNA based sex tests. Nat Genet 18:103.
29. Stacks B, Witte MM. 1996. Sex determination of dried blood stains using the polymerase chain reaction (PCR) with homologous X-Y primers of the zinc finger protein gene. J Forensic Sci 41:287-290.
30. Steinlechner M, Berger B, Niederstatter H, Parson W. 2002. Rare failures in the amelogenin sex test. Int J Legal Med 116:117-120.
31. Stone AC, Milner GR, Paabo S, Stoneking M. 1996. Sex determination of ancient human skeletons using DNA. Am J Phys Anthropol 99:231-238.
32. Sullivan KM, Mannucci A, Kimpton CP, Gill P. 1993. A rapid and quantitative DNA sex test: Fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15:636-641.
33. Thangaraj K, Reddy AG, Singh L. 2002. Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis? Int J Legal Med 116:121-123.
34. Thangaraj T, Subramanian S, Reddy AG, Singh L. 2003. Unique case of deletion and duplication in the long arm of the Y chromosome in an individual with ambiguous genitalia. Am J Med Genet 116A:205-207.
35. Tun Z, Honda K, Nakatome M, Nakamura M, Shimada S, Ogura Y, Kuroki H, Yamazaki M, Terada M, Matoba R. 1999. Simultaneous detection of multiple STR loci on sex chromosomes for forensic testing of sex and identity. J Forensic Sci 44:772-777.
36. Wallin JM, Holt CL, Lazaruk KD, Nguyen TH, Walsh PS. 2002. Constructing universal multiplex PCR systems for comparative genotyping. J Forensic Sci 47:52-65.
37. Wilson JF, Erlandsson R. 1998. Sexing of human and other primate DNA. Biol. Chem 379:1287-1288.
38. Yen P. 2001. The fragility of fertility. Nat Genet 29:243-244.
39. Young DR, Tun Z, Honda K, Matoba R. 2001. Identifying sex chromosome abnormalities in forensic DNA testing using amelogenin and sex chromosome short tandem repeats. J Forensic Sci 46:346-348.
40. Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos FR, Schiefenhovel W, Fretwell N, Jobling MA, Harihara S, et al. 1997. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:1174-1183.