Male individualization using 12 rapidly mutating Y-STRs in Araein ethnic group and shared paternal lineage of Pakistani population

• Published in: International journal of legal medicine 2018-11, Vol.132 (6), p.1621-1624
• Main Authors: Javed, Faqeeha, Sumbal, Sumbal, Shafique, Muhammad, Shahid, Ahmad Ali, Shahzadi, Abida, Rani, Noshaba, Javid, Hira, Javed, Madeeha, Gillani, Noman, Husnain, Tayyab
• Format: Article
• Language: English
• Subjects: Chromosomes, Human, Y; Deoxyribonucleic acid; Discrimination; DNA; DNA Fingerprinting; Ethnic Groups - genetics; Forensic Medicine; Genetic Markers; Genetics, Population; Genotype; Haplotypes; Humans; Male; Males; Medical Law; Medicine & Public Health; Microsatellite Repeats; Minority & ethnic groups; Multiplexing; Mutation; Mutation Rate; Original Article; Pakistan; Polymerase Chain Reaction; Polymorphism; Population genetics; Sex crimes
• ISSN: 0937-9827; 1437-1596
• DOI: 10.1007/s00414-018-1851-3

A multiplex assay has been developed with newly designed primer sets comprising high mutation rate 12 RM Y-STR markers (DYS570, DYF399S1, DYS547, DYS612, DYF387S1, DYS449, DYS576, DYS5626, DYF403S1 (a + b), DYS627, DYS526, and DYF404S1). Rapidly mutating Y-STRs were evaluated in 167 male individuals among 97 were unrelated from Araein ethnic group and 70 belonged to shared paternal lineage including 20 pairs of father-son and 15 pairs of brother-brother relationship collected from Punjabi population of Pakistan. Forensic competency parameters were implemented for each marker and exceptionally significant results found wherein polymorphism information content (PIC) was in range of 0.7494 (DYS576) to 0.8994 (DYS627). Samples were also analyzed with Y-filer kit for comparison and marked differentiations observed. Haplotype discrimination capacity was 100% as no haplotype shared among all the unrelated individuals of same ethnic group as compared to 17 Y-filer loci (78%). While in closely related males, discrimination capacity was 96.4% with haplotype diversity value of 0.98. Resulted high mutation rate 1 × 10 −2 to 7.14 × 10 −2 as compared to Y-filer (1 × 10 −4 to 1 × 10 −3 ) manifested the power of RM Y-STRs for considering absolute individualization of interrelated and unrelated male individuals. However, multiplex assay would be useful for male discrimination in mixed DNA specimen, azoospermic males, and multiple male DNA contributors in sexual assault cases and mass disasters victim’s identification as well as anthropological studies.