Additional primer sets for an amelogenin gene PCR-based DNA-sex test

Haas-Rochholz, Hildegard; Weiler, G

doi:10.1007/s004140050094

Cited by 59 publications

(32 citation statements)

References 15 publications

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“…The amelogenin gene present on the X (AMEL X) and the Y (AMEL Y) chromosomes of humans (Bailey et al 1992) showed size differences between these two chromosomes and therefore, this gene has been used to differentiate males from females (Mannucci et al 1994;Haas-Rochholz and Weiler 1997). Various companies manufacture multiplex STR kits containing the amelogenin system for individual and gender identification, respectively.…”

Section: Introductionmentioning

confidence: 99%

Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?

2002

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In humans, the amelogenin gene is present on both the X and the Y chromosomes. However, there are size differences in this gene between these chromosomes, which have been utilised for sexing in forensic casework and prenatal diagnosis. Our study using the AmpFl STR Profiler Plus kit, showed a deletion of Y chromosome-specific amelogenin in five Indian males (1.85%). We propose to call them "deleted-amelogenin males" (DAMs), who but for the detection of the presence of other Y-specific markers (e.g. SRY, STR and 50f2) would have been identified as females. Considering the consequences of the result obtained only using the amelogenin marker, we suggest the use of additional Y chromosome markers for unambiguous gender identification.

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Section: Introductionmentioning

confidence: 99%

Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?

2002

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“…Several PCR primer sets have been developed [3,4,5,6,7,8], and the most commonly used PCR-based sex test is the one described by Sullivan et al [6], flanking a 6bp deletion on the X homologue, resulting in 106 bp and 112 bp PCR products from the X and Y chromosomes, respectively. Amelogenin-based sex tests are part of various PCR multiplex reaction kits from different manufacturers which are widely used for DNA typing of both reference samples and casework samples in the forensic field [ [14,15,16].…”

Section: Introductionmentioning

confidence: 99%

Rare failures in the amelogenin sex test

Steinlechner¹,

Berger²,

Niederstätter³

et al. 2002

Int J Legal Med

116

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Determination of sex using the amelogenin sex test is well established in the forensic field especially for casework and DNA databasing purposes. The sex test is part of commercially available PCR kits. Among 29,432 phenotypic male individuals stored in the Austrian National DNA database, 6 individuals were found to lack the amelogenin Y-specific PCR product which was confirmed using alternative amelogenin primers. The amplification of eight Y-chromosomal STR markers resulted in full profiles in five out of the six samples, one sample failed to amplify Y-STRs at all. The amplification of a fragment of the SRY gene gave positive results in all six samples, confirming the male phenotype of the individuals. The observed failure rate of the amelogenin sex test was 0.018% in this study.

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“…Further examinations were performed with three alternate single AMEL primer pairs [2,15] (Fig. 1; Table 1).…”

Section: Samplesmentioning

confidence: 99%

Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population

Chen

Zhao

et al. 2011

Int J Legal Med

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The use of amelogenin locus typing as a gender marker incorporated in short tandem repeat (STR) multiplexes is a common practice in sex typing. Mutations in the X or Y homologue of the amelogenin gene can be misleading and result in serious mistakes in forensic applications and prenatal diagnosis. In these present studies, the amelogenin gene of 8,087 unrelated male individuals from Chinese Han population was genotyped with Powerplex(®)16 system. The samples that showed discordant results were taken for frequency calculation and further validated by re-amplification with different primer sets, Y-STR typing, and sequencing. Our results describe six amelogenin X-allele (AMELX) or amelogenin Y-allele (AMELY) null cases in these studied subjects with an overall prevalence of 0.074%. Further validation revealed point mutations in the amelogenin-priming sites associated with AMELX nulls (three cases, 0.037%) and deletions on the Y chromosome encompassing the AMELY and other Y-STR loci with three AMELY nulls (0.037%). These mutations and failure of the amplification of the AMELX and AMELY alleles have not been reported for the Chinese population. These and previous findings suggest that mutations in the amelogenin gene may result in amplification failure of the AMELX or AMELY allele, and an additional gender test for unambiguous sex determination may be needed.

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Additional primer sets for an amelogenin gene PCR-based DNA-sex test

Cited by 59 publications

References 15 publications

Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?

Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?

Rare failures in the amelogenin sex test

Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population

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