The Karimojong from Uganda: Genetic characterization using an X-STR decaplex system

Gomes, Iva; Pereira, Vânia; Gomes, Verónica; Prata, Maria João; Pinto, Nádia; Carracedo, Ángel; Amorim, António; Gusmão, Leonor

doi:10.1016/j.fsigen.2008.10.009

Cited by 26 publications

(31 citation statements)

References 9 publications

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“…Sequence analysis of the three groups involved in this work also confirmed the insertion of an extra adenine at a 9-mer poly-A sequence upstream of the repeat region of DXS9902 (Table 3). All sequenced alleles of this class showed the same single-base insertion (alleles 11.1, 12.1, and 13.1) and were detected only in Caucasian samples, being absent in the Asian group as well as the 393 chromosomes studied in an African sample from the Ugandan group used in this work [10]. As reported [16] Allele structure variation obtained in 58 human and nine chimpanzee chromosomes according to the adopted allele nomenclature [5].…”

Section: Dxs9902supporting

confidence: 53%

“…For the African group, sequenced alleles for DXS7132, DXS6809, and DXS7423 were selected from a genetic diversity study on three African groups [8] and for DXS9902 and DXS7133 from a Ugandan group genetic characterization [10]. Genotyping information for the Asian group was selected from a population from Macau (L. Gusmão, personal unpublished data).…”

Section: Allele Selectionmentioning

confidence: 99%

“…The tetranucleotide locus DXS7133 has been reported to be a simple repeat of ATAG units and with an allele range of six to 14 copies (e.g., [1,4,6,10,16,17,20,21,25,28]). This locus has been studied in many different populations and in particular has been one of the most frequently characterized X-chromosomal markers in Asian populations (e.g., [1,17,21]).…”

Section: Dxs7133mentioning

confidence: 99%

“…DXS9902 was first reported in a German population sample by Edelmann et al [6] as a simple GATA repeat and described as presenting an allele range of seven to 16 repeats in several population studies (e.g., [6,10,16,28]). …”

Section: Dxs9902mentioning

confidence: 99%

“…As additional research to help provide more accurate and secure genotyping results, the selection of X-chromosomal markers in the current and previous work [11] was based on those included in the X-linked decaplex recently developed by the Spanish-Portuguese Working Group of the International Society for Forensic Genetics (GEP-ISFG) [15,16]. This multiplex system has been applied in the genetic characterization of several populations [10,16,28] and is still a tool for current and future projects. Consequently, as an extension of preceding work [11], in this study, we aimed to investigate the sequence structural variation of the Xlinked loci DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in different human population groups, as well as in chimpanzees.…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

et al. 2009

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Sequencing data obtained in this study provide information on the short tandem repeat allele structures of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423. Data were obtained from the three human major population groups, namely Africans, Caucasians, and Asians as well as from chimpanzees (Pan troglodytes). DXS7133 was found to be the most stable locus and DXS6809 seemed to have evolved from a simple array of CTAT units but currently reveals a highly complex and compound structure within and between humans and chimpanzees. DXS9902 results support a TAGA allele nomenclature, which increases in one repeat unit previously reported allele distributions at this locus. For DXS7132, human/chimpanzee comparisons performed in this study provided important evidence that the CTAT allele structure should be considered for allele nomenclature purposes. Also, possible population-specific intermediate type alleles (with Native American origin) were detected at this locus that could be useful for ethnic group differentiation. DXS7423 results revealed two different sequence structures and one of these structures seems to be restricted to a single allele class in just one population group (Africans).

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Section: Dxs9902supporting

confidence: 53%

Section: Allele Selectionmentioning

confidence: 99%

Section: Dxs7133mentioning

confidence: 99%

Section: Dxs9902mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

et al. 2009

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X-linked insertion/deletion polymorphisms: forensic applications of a 33-markers panel

et al. 2010

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Insertion/deletion (INDEL) polymorphisms are diallelic markers with potential characteristics for use in forensics and biological anthropology, including: the simplicity of laboratory analysis, the possibility of genotyping many markers in a single PCR multiplex reaction, as well as analyzing markers with special inheritance types, such as those linked to the X chromosome (X-INDEL). In this work we developed a laboratory analysis methodology using a 33-INDEL marker panel for the X chromosome in a single PCR multiplex reaction, followed by a capillary electrophoresis run. We employed the panel to genotype a sample of 351 individuals of a mixed population from the Brazilian Amazon. The results demonstrate that the measurement of biostatistical parameters for forensic use in this population is compatible with prior estimates from other populations using current X-STR panels.

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Allele frequencies of 11 X-chromosomal loci of two population samples from Africa

et al. 2010

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Eleven X-chromosomal STRs from two multiplex PCR approaches (DXS6807, DXS8378, DXS7132, DXS6800, DXS9898, DXS7424, DXS101, DXS7133, HPRTB, DXS8377, and DXS7423), located in four different X-chromosomal linkage groups, were typed in two population samples from Africa, Morocco, and Madagascar. Forensic efficiency parameters such as polymorphism information content and mean exclusion chance were calculated. A deviation from the Hardy–Weinberg equilibrium could not be found. The investigation of four father–daughter and five mother–son meioses (from Morocco) revealed no mutations in any STR analyzed. Our data were compared with European, African-American, and Asian populations from the literature.

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The Karimojong from Uganda: Genetic characterization using an X-STR decaplex system

Cited by 26 publications

References 9 publications

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

X-linked insertion/deletion polymorphisms: forensic applications of a 33-markers panel

Allele frequencies of 11 X-chromosomal loci of two population samples from Africa

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