Abstract
Amelogenin is a common sex typing marker encountered in forensic case work. Phenotypically normal males have been reported in the literature who exhibit anomalous amelogenin allele. These males express only a single amelogenin peak representing AMEL-X and are called as AMEL-Y-null males. Gender misclassification of such individuals is an obvious consequence of this mutation, as a male sample would falsely appear to be a female sample. This study was aimed to attribute the AMEL-Y-null male DNA profiles encountered in forensic casework in the Pakistani population to appropriate phylogenetic clade based on shared ancestry. A total of 18 null AMEL-Y males were screened out of the sample pool of 5000 male individuals, reflecting mutational frequency of 0.36%. A common phylogenetic ancestor is suggested for 17 individuals, based on computational analysis of the Y-STR haplotypes, shown to be belonging to the J haplogroup while only one sample belonged to the R group. The samples in J groups showed homology with subclades J2b2a M241 and J2b2a PH1648, while R group individual showed 100% homology with R1a. Data are reported after haplotype network development of AMEL-Y-null Pakistani males using Network 10.0 for the study of evolutionary distances and emergence of nodes.
Highlights
Human gender identification has important applications in forensic casework [1], parentage determination [2], archaeological analysis [3], DNA data basing, and blood sample storage
Expansion in CODIS core loci in the USA was proposed [37], and 20 loci are categorized as core CODIS loci since 2017. e new commercial kits include additional autosomal STR loci and a Y-STR locus to help in sex determination in case amelogenin fails to amplify
Conclusions e current study of 18 AMEL-Y-null males out of a total of 5000 male reference samples with the frequency of 0.36% in Pakistani populations emphasizes the requirement for the employment Y-STR markers for sex typing to acquire accurate results
Summary
Human gender identification has important applications in forensic casework [1], parentage determination [2], archaeological analysis [3], DNA data basing, and blood sample storage. E Y-chromosome sex marker amelogenin is extensively used for determination of chromosomal sex of an unknown individual and differentiating the comparative influences of male and female DNA in the mixed forensic samples [4, 5]. Ere is a small variation between AMEL-X and AMLEY, attributed to a 6 bp deletion in the third intron of the AMEL-X isoform [6, 8, 9] While this deletion has no phenotypical manifestation, it is, conventionally exploited in forensic DNA analysis to differentiate male and female DNA profiles. Many primer sets have been developed for the amplification of the amelogenin gene to use it as a sex typing test [8, 10,11,12]. Many primer sets have been developed for the amplification of the amelogenin gene to use it as a sex typing test [8, 10,11,12]. e most commonly used primer set executes PCR amplification, resulting in AMEL-X/AMEL-Y amplicons of 106 bp and 112 bp, respectively [1]
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