DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome short tandem repeats

The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. In a previous study, we identified four phylogenetically related samples with a null allele at DYS448 and a tetrallelic pattern at DYF387S1, two Y-STRs located in the AZFc. Through NGS read depth analysis, we found that the unusual Y-STR pattern may be due to a 1.6 Mb deletion arising concurrently or after a 3.5 Mb duplication event. The observed large genomic rearrangement results in copy number reduction for the RBMY gene family as well as duplication of other AZFc genes. Based on the diversity of 16 additional Y-STRs, we estimated that the duplication/deletion event occurred at least twenty generations ago, suggesting that it has not been affected by negative selection.

Download Full-text

Y-Chromosome Haplotypes for Six Short Tandem Repeats (STRs) in a Mexican Population

Archives of Medical Research ◽

10.1016/s0188-4409(01)00266-1 ◽

2001 ◽

Vol 32 (3) ◽

pp. 232-237 ◽

Cited By ~ 12

Author(s):

Héctor Rangel-Villalobos ◽

Ana Rebeca Jaloma-Cruz ◽

Lucila Sandoval-Ramı́rez ◽

Jesús Salvador Velarde-Félix ◽

Martha Patricia Gallegos-Arreola ◽

...

Keyword(s):

Y Chromosome ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Mexican Population ◽

Short Tandem

Download Full-text

Y-chromosome short tandem repeats analysis to complement paternal lineage study: a single institutional experience in Taiwan

Transfusion ◽

10.1111/j.1537-2995.2007.01210.x ◽

2007 ◽

Vol 47 (5) ◽

pp. 918-926 ◽

Cited By ~ 2

Author(s):

Hsueng-Mei Liu ◽

Pei-Shan Chen ◽

Ying-Ju Chen ◽

Jau-Yi Lyou ◽

Hui-Yu Hu ◽

...

Keyword(s):

Y Chromosome ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Paternal Lineage ◽

Institutional Experience ◽

Short Tandem

Download Full-text

New Advances Reconstructing the Y Chromosome Haplotype of Napoleon the First Based on Three of his Living Descendants

Journal of Molecular Biology Research ◽

10.5539/jmbr.v5n1p1 ◽

2014 ◽

Vol 5 (1) ◽

pp. 1

Author(s):

Gerard Lucotte ◽

Peter Hrechdakian

Keyword(s):

Y Chromosome ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Fifth Generation ◽

Napoleon I ◽

Chromosome Haplotype ◽

Short Tandem

This paper describes the findings of the complete reconstruction of the lineage Y chromosome haplotype of the French Emperor Napoléon I. In a previous study (Lucotte et al., 2013) we reconstructed, for more than one hundred Y-STRs (Y–short tandem repeats), the Y-chromosome haplotype of Napoléon I based on data comparing STR allelic values obtained from the DNA of two of his living descendants: Charles Napoléon (C.N.) and Alexandre Colonna Walewski (A.C.W.); in the present study we compare STR allelic values of C.N. and A.C.W. to those of Mike Clovis (M.C.), a living fifth generation descendant of Lucien (one of Napoléon’s brothers). When compared between M.C., C.N. and A.C.W., STR allelic values are identical for a total of 93 STRs; that permits us to propose those values, for which the three living descendants are identical, as expected allelic values of Napoléon I’s Y-chromosome haplotype. For seven STRs, allele values are variable between M.C., C.N. and A.C.W.; we propose for three of them (DYS442, DYS454 and DYS712) expected allelic values, based on data concerning the allele distributions of these STRs in the population.

Download Full-text