Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample

Robino, Carlo; Giolitti, Andrea; Gino, Sarah; Torre, Carlo

doi:10.1007/s00414-006-0115-9

Cited by 48 publications

(38 citation statements)

References 25 publications

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“…A total of 7-16 alleles for each locus and, altogether, 55 alleles were observed. The allele distribution of all five STRs in the Pakistani population is similar to other reported populations; however, a rare allele 9 of DXS7424 was observed in the Pakistani population that was only reported in Italian and German populations [17,22].…”

Section: Resultssupporting

confidence: 60%

Haplotype analysis of two X-chromosome STR clusters in the Pakistani population

2008

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Haplotype analysis of closely associated markers has proven to be a powerful tool in kinship analysis especially when X-chromosome short tandem repeats fail to resolve uncertainty in relationship analysis. Microsatellites located on the X chromosome show stronger linkage disequilibrium compared with autosomal microsatellites; hence, it is necessary to estimate the haplotype frequencies directly from population studies as linkage disequilibrium is population-specific. Here, we describe five markers residing in two clusters; cluster I harboring three STR markers DXS6801-DXS6809-DXS6789 and cluster II harboring two STR markers DXS7424-DXS101. A total of 302 male DNA samples of Pakistani descent were analyzed. Theoretically, 847 and 160 different combinations of haplotypes are possible in clusters I and II, but genotyping identified only 129 and 75 haplotypes, respectively. No evidence of linkage disequilibrium was detected, except for the pair (DXS6801-DXS6789), consistent with results obtained with the cluster I in a German population. Our results demonstrate that 83% haplotypes of cluster I and 65% haplotypes of cluster II show <1% frequency in the Pakistani population. This strongly suggests that haplotypes of these two clusters provide a powerful tool for kinship testing and relationship investigations.

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Section: Resultssupporting

confidence: 60%

Haplotype analysis of two X-chromosome STR clusters in the Pakistani population

2008

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“…A multiplex polymerase chain reaction systems for the automated profiling of 12 X-chromosomal short tandem repeat (STR) markers were used. Multiplex consisted of DXS6789, DXS6809, GATA172D05, DXS101, DXS8378, DXS8377, DXS7132, DXS6800, DXS6801, DXS7424, HPRTB, and DXS1001 (Jauniaux et al, 2003;Robino et al, 2006). This set of amplified X-STRs includes markers generating highly informative haplotypes able to distinguish maternal and fetal DNA.…”

mentioning

confidence: 99%

“…The second aliquot underwent magnetic negative CD45 selection (CliniMacs, Miltenyi, Bergisch Gladbach, Germany) to exclude maternal blood contamination (unpublished results). Samples were analyzed by quantitative fluorescent-PCR (QF-PCR) as follows (Jauniaux et al, 2003;Robino et al, 2006). A multiplex polymerase chain reaction systems for the automated profiling of 12 X-chromosomal short tandem repeat (STR) markers were used.…”

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confidence: 99%

Embryo‐fetal erythroid megaloblasts in the human coelomic cavity

Renda

Giambona

Fecarotta

et al. 2010

Journal Cellular Physiology

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The coelomic cavity is part of the extraembryonic mesoderm, surrounding amniotic cavity, embryo, and yolk sac in the early gestation. It is now believed to represent an important transfer interface and a reservoir of nutrients for the embryo. Coelocentesis by ultrasound-guided transvaginal puncture offers an easier access to the early human embryo, from 28 days post-fertilization. However, despite some studies about its biochemical composition being reported, our knowledge about the presence of cellular elements and their quality in this compartment are still limited. Here we studied human coelomic fluids sampled from 6.6 (48 days) to 10 weeks of gestation, demonstrating the presence of functional embryonic erythroid precursors, that is, megaloblasts in the coelomic cavity. The ease of access of the coelomic cavity could allow the development of novel strategies for diagnostic or therapeutic purposes by ultrasound imaging and ultrasound-guided puncture.

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“…The first multiplex study with respect to X-STRs analysed nine loci in three different multiplexes which included duplex PCR (DXS6789 and DXS6795), Triplex PCR (DXS7133, DXS9895 and DXS9898) and Quadruplex PCR (DXS6803, DXS8378, GATA164A09, and DXS7132) [60]. In a very short period of time, other studies came up with parallel amplification of three [61], four [62,60], five [63,64], six [65], seven [66], eight [67] ten [15], eleven [68], twelve [69], and thirteen [70,71], X-STR markers. Multiplexes with a greater number of markers are being developed to obtain a higher degree of discrimination.…”

Section: X-chromosomal Strs and Ministrs: Identity Testing And Beyondmentioning

confidence: 99%

Scope of X-Chromosomal MiniSTRs: Current Developments

Israr¹

2014

J Forensic

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The experience of using autosomal short-length amplicon STRs or miniSTRs in profiling of degraded DNA and mass disaster victims is extended into the realm of X-chromosomal (ChrX) STR miniaturization. About half of the total X-STRs are now short-length amplicons and the focus is shifting to using the mini versions of all of them. Joint multiplexing of these loci can be used for solving complex paternity cases and association of mass disaster victims with their families. This technology may herald a new dimension for research in population genetics and evolution. We present an overview of the progress made thus far and the future scope and prospects for X-miniSTRs.

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Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample

Cited by 48 publications

References 25 publications

Haplotype analysis of two X-chromosome STR clusters in the Pakistani population

Haplotype analysis of two X-chromosome STR clusters in the Pakistani population

Embryo‐fetal erythroid megaloblasts in the human coelomic cavity

Scope of X-Chromosomal MiniSTRs: Current Developments

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