Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer™ kit

Sánchez, C.; Barrot, C.; Xifró, Alexandre; Ortega, M.; Aranda, Ismael; Huguet, E.; Corbella, Jacint Corbella i; Gené, M.

doi:10.1016/j.forsciint.2007.01.007

Cited by 26 publications

(15 citation statements)

References 13 publications

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“…Null types at the locus DYS448 have been reported previously [19][20][21][22][23][24]. Roewer et al [23] identified seven out of 99 Kalmyk individuals with null types.…”

Section: Resultsmentioning

confidence: 83%

“…Several authors suggested that the null types may be due to deletions, although sequencing was not performed to verify that a deletion was the cause of the null type. Null types have been reported primarily in Asian populations; however, Sanchez et al [24] identified two individuals out of 247 Catalonians who were null at the DYS448 locus. They recommended further studies to determine if the null types were due to a large deletion or a primer binding site mutation(s).…”

Section: Resultsmentioning

confidence: 99%

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Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Budowle

Aranda

Lagacé³

et al. 2008

Int J Legal Med

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Null alleles can occur with any PCR-based STR typing system. They generally are due to deletions within the target region or primer binding sites or by primer binding site mutations that destabilize hybridization of at least one of the primers flanking the target region. Although not common, null types were detected at the DYS448 locus in seven out of 1,005 unrelated males in the Hispanic population. Of these DYS448 null types, four individuals displayed an apparent duplication at the DYS437 locus. The additional allele observed at the DYS437 locus is in actuality a smaller-sized DYS448 amplicon, which is the result of a deletion of the invariant N42 base pair domain and downstream repeats within the DYS448 locus. Thus, some DYS448 null types are not truly null. A true DYS448 null allele carried numerous primer binding site variants and a large deletion including the N42 base pair domain and surrounding or downstream repeat regions. The presence of null alleles is not a real concern for interpretation of Y STR loci evidence; current methods for interpreting Y STR profiles easily accommodate such phenomena.

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“…Null types at the locus DYS448 have been reported previously [19][20][21][22][23][24]. Roewer et al [23] identified seven out of 99 Kalmyk individuals with null types.…”

Section: Resultsmentioning

confidence: 83%

Section: Resultsmentioning

confidence: 99%

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Budowle

Aranda

Lagacé³

et al. 2008

Int J Legal Med

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“…[23], Pyrenees [21], Barcelona [33], Portugal [26], Italy [29], the Balkans [5], Tunisia [9], Denmark [18], Majorca, Valencia, Ibiza, Catanzaro, Cosenza, Reggio Calabria and Sicily (this study)) significantly different sub-sets: one with the Spanish populations (Valencia, Ibiza and Majorca) and another with the Calabrian samples (Catanzaro, Cosenza and Reggio Calabria). Sicily was closer to the Italian than to the Spanish populations, although presented significant differences with Reggio Calabria (P<0.005).…”

Section: Resultsmentioning

confidence: 56%

Genetic sub-structure in western Mediterranean populations revealed by 12 Y-chromosome STR loci

et al. 2008

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Haplotype and allele frequencies of 12 Y-chromosome short tandem repeat (Y-STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 a/b, DYS437, DYS438 and DYS439) included in the Powerplex(R) Y System were determined in seven western Mediterranean populations from Valencia, Majorca, Ibiza (eastern Spain), Sicily and three Calabrian provinces (southern Italy). Amongst the 554 males included in the study, 443 different haplotypes were observed of which 372 were only observed once. The other haplotypes were shared by two to seven men. The overall haplotype diversity was 0.9988 +/- 0.0002. These Y-STRs markers showed a low capacity of discrimination (56.3%) in the Ibiza population probably due to genetic drift. Comparisons between the populations studied and other neighbouring populations showed a clear genetic sub-structure in the western Mediterranean area.

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“…Notably, the DYS448 null allele was observed in Japanese (10 of 1079 men) (8), Nepalese (three of 769) (9), three ethnic groups (Malays, Chinese, and Indians) living in Malaysia (three of 980) (10), Kalmyk (seven of 99) (11), Mexican (one of 326) (12), Spanish (one of 247) (13), and three racial groups studied in Yfiler TM haplotype database by Applied Biosystems (two each of 330 Asians, 985 African Americans, and 1276 Caucasians). It was speculated that null allele at the DYS448 appeared more frequently in Asians than any other populations.…”

Section: Resultsmentioning

confidence: 99%

A Y‐Chromosomal Haplotype with Two Short Tandem Repeat Mutations*

Kuang

Zhu

et al. 2012

Journal of Forensic Sciences

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The male-specific Y-chromosomal short tandem repeat (STR) is a useful tool in forensic casework. The Y haplotype comprised of 16 loci, which is amplified simultaneously by AmpFlSTR(®) Yfiler(TM) PCR kit and provides strong exculpatory evidence in individual identification. We reported a rare Y-STR profile with a null allele at the DYS448 locus and an off-ladder allele at the DYS456 locus, when genotyping material from a vaginal swab in an alleged rape case. Sequence analysis revealed that the DYS448 null allele was a true type of null allele because of a total deletion of 11 upstream repeats and 9bp of the N(42) region, and there were numerous primer binding site mutations as well. The amplicon of the DYS456 locus was a small 92-bp fragment that was off-ladder, and sequencing analysis showed that there were only 10 repeats (AGAT)(10). This Y chromosome haplotype that was comprised of two variations provided helpful evidence for personal identification.

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Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer™ kit

Cited by 26 publications

References 13 publications

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Null allele sequence structure at the DYS448 locus and implications for profile interpretation

Genetic sub-structure in western Mediterranean populations revealed by 12 Y-chromosome STR loci

A Y‐Chromosomal Haplotype with Two Short Tandem Repeat Mutations*

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