{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:41:17Z","timestamp":1747190477955,"version":"3.40.5"},"reference-count":49,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,5,4]],"date-time":"2021-05-04T00:00:00Z","timestamp":1620086400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Scientifica"],"published-print":{"date-parts":[[2021,5,4]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1155\/2021\/5521411","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T17:07:55Z","timestamp":1620234475000},"page":"1-9","source":"Crossref","is-referenced-by-count":1,"title":["Diversification of Pakistani Amelogenin-Y-Null Male Haplotypes"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5384-4405","authenticated-orcid":true,"given":"Nasir","family":"Siddique","sequence":"first","affiliation":[{"name":"Department of Biochemistry & Biotechnology, University of Gujrat, Gujrat, Pakistan"},{"name":"DNA and Serology Section, Punjab Forensic Science Agency, Lahore, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad Ali","family":"Shahid","sequence":"additional","affiliation":[{"name":"National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5211-2747","authenticated-orcid":true,"given":"Kalsoom","family":"Sughra","sequence":"additional","affiliation":[{"name":"Department of Biochemistry & Biotechnology, University of Gujrat, Gujrat, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"issue":"4","key":"1","first-page":"636","article-title":"A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin","volume":"15","author":"K. 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