A Case of Amelogenin Y-null: A simple primer binding site mutation or unusual genetic anomaly?

Davis, Carey; Illescas, María José; Tirado, Carmen Noheda; López, Roberto; Budowle, Bruce; Cruz, Tracey Dawson

doi:10.1016/j.legalmed.2012.05.002

Cited by 8 publications

(5 citation statements)

References 13 publications

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“…In rare cases, the absence of the Amelogenin-Y allele from an unknown sample could lead to gender misidentification in the absence of corroborating information. The absence of the Y allele from a known male sample could be due to either a primer binding site variant or in some cases to large deletions on the Y-cromosome [ 21 , 25 – 28 ]. As shown in Fig.…”

Section: Resultsmentioning

confidence: 99%

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Developmental validation of GlobalFiler™ PCR amplification kit: a 6-dye multiplex assay designed for amplification of casework samples

et al. 2018

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The GlobalFiler™ PCR Amplification Kit is a single multiplex assay that amplifies a set of 24 markers, which encompass the European Standard Set and CODIS (Combined DNA Index System) recommended composite set of loci. In addition to more loci and a 6-dye chemistry format, the Master Mix has been formulated to allow higher sample loading volume for trace DNA samples. The GlobalFiler™ Kit has been optimized to deliver high performance on casework samples, while also delivering fast thermal cycling, with an amplification time of approximately 80 min. Here, we report the results of the developmental validation study which followed the SWGDAM (Scientific Working Group on DNA Analysis Methods) guidelines and includes data for PCR-based studies, sensitivity, species specificity, stability, precision, reproducibility and repeatability, concordance, stutter, DNA mixtures, and performance on mock casework samples. The results validate the multiplex design as well as demonstrate the kit’s robustness, reliability, and suitability as an assay for human identification with casework DNA samples.Electronic supplementary materialThe online version of this article (10.1007/s00414-018-1817-5) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

“…(Gender was independently verified with the Yfiler Plus kit. This individual has a large internal deletion on the Y-chromosome spanning not only the amelogenin Y gene but multiple Y-STRs (DYS570, DYS576, DYS458, DYS449, DYS481 and DYS627)) [ 21 ].…”

Section: Methodsmentioning

confidence: 99%

Developmental validation of GlobalFiler™ PCR amplification kit: a 6-dye multiplex assay designed for amplification of casework samples

et al. 2018

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“…When using only amelogenin as a sex marker in autosomal STR kits, dropouts in amelogenin Y or X may be troublesome in forensic caseworks during sex affirmation (Ma et al, 2012;Davis et al, 2012;Ou et al, 2012). X-STRs and Y-STRs are important complements to autosomal STR analysis in some forensic cases (Yang et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

Analysis of the 19 Y-STR and 16 X-STR loci system in the Han population of Shandong province, China

et al. 2017

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“…The X chromosome copy could be employed as a positive control for successful amplification of Amelogenin, implying a female DNA contributor in the absence of AMELY via an apparent lack of amplification of Y‐chromosome DNA . However, there have been numerous occurrences of female false‐positive amelogenin profiles reported by the forensic community . Originally, the cause of AMELY failures in samples that included male DNA was thought to be a mutation in the primer binding site (PBS) with some forensic kits employing degenerate primers to combat this (e.g., AmpFISTR ® Identifiler ® PCR Amplification Kit (Applied Biosystems by Life Technologies)).…”

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confidence: 99%

“…Recent reports have illustrated that numerous false‐positive female outcomes are found to be the result of a variety of different sized deletions on the short arm of the Y chromosome . Deletions range in size with some identified as being over 9 Mb in length . This variation in deletion size is suggestive of multiple different deletion events at the amelogenin Y locus, which also do not appear to have an effect on male phenotype or sexual function .…”

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confidence: 99%

“YFlag” – A Single‐base Extension Primer Based Method for Gender Determination

Allwood

Harbison

2014

Journal of Forensic Sciences

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Assigning the gender of a DNA contributor in forensic analysis is typically achieved using the amelogenin test. Occasionally, this test produces false-positive results due to deletions occurring on the Y chromosome. Here, a four-marker "YFlag" method is presented to infer gender using single-base extension primers to flag the presence (or absence) of Y-chromosome DNA within a sample to supplement forensic STR profiling. This method offers built-in redundancy, with a single marker being sufficient to detect the presence of male DNA. In a study using 30 male and 30 female individuals, detection of male DNA was achieved with c. 0.03 ng of male DNA. All four markers were present in male/female mixture samples despite the presence of excessive female DNA. In summary, the YFlag system offers a method that is reproducible, specific, and sensitive, making it suitable for forensic use to detect male DNA.

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A Case of Amelogenin Y-null: A simple primer binding site mutation or unusual genetic anomaly?

Cited by 8 publications

References 13 publications

Developmental validation of GlobalFiler™ PCR amplification kit: a 6-dye multiplex assay designed for amplification of casework samples

Developmental validation of GlobalFiler™ PCR amplification kit: a 6-dye multiplex assay designed for amplification of casework samples

Analysis of the 19 Y-STR and 16 X-STR loci system in the Han population of Shandong province, China

“YFlag” – A Single‐base Extension Primer Based Method for Gender Determination

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