A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR

• Type: Article in International Scientific Journal
• Date: 2012

Authors

Rui Pereira (Author) Other; Vania Pereira (Author) Other; Iva Gomes (Author) Other; Carmen Tomas (Author) Other; Niels Morling (Author) Other; Antonio Amorim (Author) FCUP; Maria Joao Prata (Author) FCUP; Angel Carracedo (Author) Other; Leonor Gusmao (Author) Other

Journal

Title: International Journal of Legal Medicine

Vol. 126 No. 1

Pages: 97-105

ISSN: 0937-9827

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 37 Citations

Scopus - 44 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-002-H9F

DOI: 10.1007/s00414-011-0593-2

Abstract (EN): Studies of human genetic variation predominantly use short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) but Insertion deletion polymorphisms (Indels) are being increasingly explored. They combine desirable characteristics of other genetic markers, especially the possibility of being analysed using short amplicon strategies, which increases the ease of analysis, contributing to justify their interest in population and forensic genetics. After the advent of autosomal and uniparental genomes (mtDNA and Y chromosome), these fields of research are also focusing on the X chromosome, given its special transmission pattern. The X chromosome markers brought new insights into the history of modern human populations and also proved useful in forensic kinship investigations, namely in deficient relationship cases and in cases where autosomes are uninformative. This work describes an X-Indel multiplex system amplifying 32 biallelic markers in one single PCR. The multiplex includes X-Indels shown to be polymorphic in the major human population groups and follows a short amplicon strategy. The set was applied in the genetic characterization of sub-Saharan African, European and East Asian population samples and revealed high forensic efficiency, as measured by the accumulated power of discrimination (0.9999990 was the lowest value in males and 0.999999999998 was the highest in females) and mean exclusion chance varied between 0.998 and 0.9996 in duos and between 0.99997 and 0.999998 in trios. Finally, a segregation analysis was performed using trio constellations of father-mother-daughters in order to address the transmission pattern and assess mutation rates of this type of markers.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 9