Flemish population data and sequence structure of the hypervariable tetranucleotide repeat locus D12S1090

Mertens, Gerhard; Mommers, N.; Boutrand, L; Gielis, M; Vandenberghe, Antoon

doi:10.1007/s004140100227

Cited by 9 publications

(4 citation statements)

References 15 publications

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“…We suggest that this locus is suitable for typing severely degraded stains, as the fragment length of the alleles is well below 150 bp. No mutation studies have been performed, nevertheless it can be assumed from the uninterrupted repeat length of this locus that the mutation rate should be comparable to that of other STRs used for paternity testing [4,17,18,19]. Since typing the D1S1171 locus proved to be easy, we suggest this locus as a very useful system for both forensic stain analysis and paternity testing.…”

Section: Discussionmentioning

confidence: 93%

D1S1171: a new highly variable short tandem repeat polymorphism

Reichenpfader¹,

Leinzinger²,

Klintschar

2002

International Journal of Legal Medicine

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This study reports the evaluation of the STR locus D1S1171 (GDB: 312934) for forensic purposes, which was investigated by PCR amplification and native polyacrylamide gel electrophoresis in 141 unrelated Austrians. No deviations from Hardy-Weinberg expectations were observed. The mean exclusion chance (MEC) was 0.677, the discriminating power (DP) was 0.951 and the observed heterozygosity rate was 0.853. An allelic ladder consisting of 10 sequenced alleles (96-132 bp) was constructed. Sequence analysis revealed a GAAA repeat motif. According to the number of tetranucleotide repeats the smallest allele was designated 9 and the largest allele 18.

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Section: Discussionmentioning

confidence: 93%

D1S1171: a new highly variable short tandem repeat polymorphism

Reichenpfader¹,

Leinzinger²,

Klintschar

2002

International Journal of Legal Medicine

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“…In our laboratory, we have analysed 510 paternity cases and observed four parent-child mismatches out of which one was maternal (reported in the present study) and three were paternal (unpublished), yielding an overall mutation rate of 7.85×10 −3 . The age distribution of mothers and fathers at the time of conception is shown in Table 4 [21]. [3] have reported a ratio of 17:3 of paternal vs maternal mutants.…”

Section: Resultsmentioning

confidence: 99%

Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child

et al. 2006

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Examination of a case of a paternity dispute with 17 autosomal short tandem repeats (STR) loci revealed a mismatch of the maternally transmitted allele at the locus D13S317 in the questioned child. The composition of the alleles of this locus in the mother, questioned child and suspected father was 8/8, 11/11 and 8/11, respectively. The sequence analysis of the regions flanking the locus D13S317 and peak height measurements of the paternal, maternal and child alleles at this locus excluded the possibility of null allele as a cause of the allelic mismatch inherited by the child. The results suggested expansion of the microsatellite repeat motif, TATC by three repeat units as a probable cause for the allelic mismatch in the child. This is a rare case of maternally transmitted multistep microsatellite mutation reported for the first time for this locus in the forensic DNA analysis. The mutation rate at D13S317 locus in maternal and paternal meiosis was 0.04 and 0.14%, respectively, and overall mutation rate was 0.15%. The probability of maternity and paternity were 0.999999 and 0.999999, respectively, for all the 17 autosomal STR loci analyzed. Furthermore, the sequence of two hypervariable regions of mitochondrial DNA, HV1 and HV2 and the maternal alleles of six X chromosome STR loci in the questioned child matched completely with the mother. These results conclusively proved that the mother and suspected father are the biological parents of the questioned child.

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“…edu). Of these 14 loci, four loci are novel (D8S1110, D13S765, D17S1294, and D18S536), and ten loci have been described in previous papers [7][8][9][10][11][12][13]. However, we modified all the previously reported primer sets in order to amplify the fragments in a single PCR reaction.…”

Section: Methodsmentioning

confidence: 96%

Fourteen non-CODIS autosomal short tandem repeat loci multiplex data from Taiwanese

Hwa

Chang²,

Lee

et al. 2010

Int J Legal Med

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Interest in the development of polymorphic short tandem repeat (STR) markers unlinked to the CODIS loci is growing among forensic practitioners. We developed a multiplex system in which14 autosomal STR (D3S1744, D4S2366, D8S1110, D12S1090, D13S765, D14S608, Penta E, D17S1294, D18S536, D18S1270, D20S470, D21S1437, Penta D, and D22S683) could be amplified in one single polymerase chain reaction. DNA samples from 572 unrelated Taiwanese Han subjects were analyzed using this 14 STR multiplex system. Thirty parent-child pairs of parentage testing cases with a combined paternity index (CPI) below 1,000 and 32 parent-child pairs with single-step mutations found in AmpFℓSTR Identifiler loci were also recruited for validation of the newly developed system. DNA sequencing was performed for novel STRs and novel alleles found in these subjects. The distributions of allelic frequencies for these autosomal STRs and sequence data, allele nomenclature for the STRs, and forensic parameters are presented. The discrimination power in our multiplex loci ranged from 0.6858 (D18S536) to 0.9168 (Penta E), with a combined discrimination power of 0.999999999. It provides additional power to distinguish the possible single-step mutations in parent-child pairs and improves the ability to prove parentage by increasing the CPI. The combined power of exclusion of these 14 loci in Taiwanese Han in this study was 0.9999995913. In conclusion, this 14-autosomal STRs multiplex system provides highly informative STR data and appears useful in forensic casework and parentage testing.

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Flemish population data and sequence structure of the hypervariable tetranucleotide repeat locus D12S1090

Cited by 9 publications

References 15 publications

D1S1171: a new highly variable short tandem repeat polymorphism

D1S1171: a new highly variable short tandem repeat polymorphism

Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child

Fourteen non-CODIS autosomal short tandem repeat loci multiplex data from Taiwanese

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