Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles

Mertens, Gerhard; Gielis, M; Mommers, N.; Mularoni, Angélique; Lamartine, Jérôme; Heylen, H; Muylle, L.; Vandenberghe, Antoon

doi:10.1007/s004140050231

Cited by 14 publications

(12 citation statements)

References 15 publications

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“…Sequences analysis of DXS6854 revealed a simple repeat motif (ATTT)n, and no intermediate alleles were found. Genotype of K562 DNA and 9947A DNA were 14 and [13,14], respectively, which have not been reported previously. A total of 80 alleles, ranging from six to 18 for each locus, were observed in 446 Guangdong Han individuals.…”

Section: Resultscontrasting

confidence: 69%

Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China

Liu¹,

Lu²,

et al. 2010

Int J Legal Med

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This study is to develop a new multiplex polymerase chain reaction (PCR) system that simultaneously amplifies the nine X-chromosome short tandem repeats loci in the same PCR reaction, and to explore their polymorphism and mutation rate among three nationality populations from China. These loci included DXS6854, DXS9902, DXS6809, GATA172D05, HPRTB, DXS7423, DXS6807, DXS8378, and DXS8377. The samples of 890 (484 males and 406 females) unrelated individuals from Guangdong Han population, Xinjiang Uigur, and Inner-Mongolia Mongol were successfully analyzed using this multiplex system. The allele frequencies and mutation rates of the nine loci were investigated, and the comparison of allele frequency distribution among different populations was performed. There were 87 alleles for all the loci, and six to 18 alleles for each locus observed by our new multiplex PCR system. Polymorphism information content was 0.4998-0.9101, and power of discrimination in females was 0.6518-0.9846. Five cases with mutation of above loci were detected in 5,310 meioses. Pair-wise comparisons of allele frequencies distribution showed significant differences for most loci among different populations. Our results indicate that this multiplex system is very useful for identification analysis, and that the information about polymorphism and mutation rate is necessary for forensic application in three nationality populations from China.

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Section: Resultscontrasting

confidence: 69%

Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China

Liu¹,

Lu²,

et al. 2010

Int J Legal Med

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“…Similarly, in the HPRTB ladders of the Argus X-UL ® and Argus X-8 ® kits (Biotype AG, Dresden, Germany), the nomenclature of the alleles is based on the coding strand sequence, but the repeat was wrongly defined as (CTAT) n [3] which again resulted in a loss of one repeat compared with the correct (TCTA) n counting mode. Moreover, the repeat allele design according to Mertens et al [12] and Becker et al [3] accidentally was in agreement with the traditional HPRTB nomenclature based on the (AGAT) n repeat counts defined by Edwards et al [7]. Hence, the confusion was not obvious.…”

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confidence: 67%

“…Consequently, in the early years of HPRTB typing, many population studies were published which all referred to the AGAT repeat counting [5,8,13,16,22]. Although Mertens et al [12] chose the coding strand for allele designation, they wrongly defined the STR as (ATCT) n which resulted in the same repeat number as described for the (AGAT) n repeat counting. Similarly, in the HPRTB ladders of the Argus X-UL ® and Argus X-8 ® kits (Biotype AG, Dresden, Germany), the nomenclature of the alleles is based on the coding strand sequence, but the repeat was wrongly defined as (CTAT) n [3] which again resulted in a loss of one repeat compared with the correct (TCTA) n counting mode.…”

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confidence: 99%

Nomenclature discrepancies in the HPRTB short tandem repeat

et al. 2009

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“…After sequencing analysis of DNA reference samples 9947A and 9948 for locus HPRTB (Table S2) [12]. According to our results and to the recommendations of the DNA commission of the ISFG [10], we named this allele as 13 (D48AGdel) instead of 12.2.…”

Section: Nomenclaturementioning

confidence: 93%

Genetic analysis of three US population groups using an X-chromosomal STR decaplex

et al. 2007

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An X-chromosomal multiplex amplifying ten short tandem repeats (STRs) in one single PCR reaction was developed and optimized in this work. The X-STRs included were DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101, and DXS6789. Decaplex performance was tested on 377 male samples from three United States population groups, namely, 130 African Americans, 104 Asians, and 143 Hispanics. DXS8377 was the most polymorphic locus across all three populations, whereas DXS7423 was the least informative marker. Genetic distance analysis (R (ST) and F (ST)) performed for the three populations residing in New York showed significant genetic distances between population groups for most pairwise comparisons, except for HPRTB, DXS6809, and DXS7132. When testing linkage disequilibrium for all pairs of loci in the three groups, no significant association was found between any pair of the loci studied, after applying Bonferroni correction. The high values for the average probability of excluding a random man obtained in all three populations when both mother and daughter are tested or when father/daughter relationships are evaluated support the potential of this decaplex system in kinship analysis. Also, the overall high power of discrimination values for samples of female and male origin, confirms the usefulness of this decaplex system in identification analysis. As expected, results also support the use of independent databases comprising these ten X-linked loci for the three US populations evaluated.

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Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles

Cited by 14 publications

References 15 publications

Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China

Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China

Nomenclature discrepancies in the HPRTB short tandem repeat

Genetic analysis of three US population groups using an X-chromosomal STR decaplex

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