nach oben

Erschienen in:

01.01.2009 | Short Communication

An INDEL polymorphism at the X-STR GATA172D05 flanking region

verfasst von: Elzemar Martins Ribeiro Rodrigues, Ney Pereira Carneiro dos Santos, Ândrea Kely Campos Ribeiro dos Santos, Anderson Nonato Marinho, Marco Antonio Zago, Iva Gomes, António Amorim, Leonor Gusmão, Sidney Emanuel Batista dos Santos

Erschienen in: International Journal of Legal Medicine | Ausgabe 1/2009

Einloggen, um Zugang zu erhalten

Abstract

A new polymorphic INDEL was detected at the X-STR GATA172D05 flanking region, which corresponds to an 18-bp deletion, 141 bp upstream the TAGA repeat motif. This INDEL was found to be polymorphic in different population samples from Native Americans, Africans, and Europeans as well as in an admixed population from the Amazonia (Belém). Gene diversities varied between 37.5% in Native Americans and 49.9% in Africans. Comparison between human and chimpanzee sequences showed that the ancestral state corresponds to the presence of two copies of 18 bp, detected in both species; and the mutated allele has lost one of these two copies. The simultaneous analysis of the short tandem repeat (STR) and INDEL variation showed an association between the INDEL ancestral allele with the shorter STR alleles. High diversities were found in all population groups when combining the information provided by the INDEL and STR variation. Gene diversities varied between 76.7% in Native Americans and 80.6% in both Portugal and Belém.

Bedoya G, Montoya P, Garcya J et al (2006) Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate. PNAS 103:7234–7239PubMedCrossRef

Laan M, Wiebe V, Khusnutdinova E, Remm M, Paabo S (2005) X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations. Eur J Hum Genet 13:452–462PubMedCrossRef

Pereira RW, Pena SD (2006) Phylogeography of haplotypes of five microsatellites located in a low-recombination region of the X chromosome: studies worldwide and in Brazilian populations. Genetica 126:243–250PubMedCrossRef

Toni C, Presciuttini S, Spinetti I, Domenici R (2003) Population data of four X-chromosome markers in Tuscany, and their use in a deficiency paternity case. Forensic Sci Int 137:215–216PubMed

Caine LM, Pontes L, Abrantes D, Lima G, Pinheiro F (2007) Genetic data of four X-chromosomal STRs in a population sample of Santa Catarina, Brazil. J Forensic Sci 52:502–503PubMedCrossRef

Edelmann J, Lessig R, Klintschar M, Szibor R (2004) Advantages of X-chromosomal microsatellites in deficiency paternity testing: presentation of cases. Int Congr Ser 1261:257–259CrossRef

Ballard DJ, Phillips C, Wright G, Thacker CR, Robson C, Revoir AP, Syndercombe Court D (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRef

Gusmão L, Amorim A, Prata MJ, Pereira L, Lareu MV, Carracedo A (1996) Failed PCR amplifications of MBP-STR alleles due to a polymorphism in the primer annealing region. Int J Legal Med 108:313–315PubMedCrossRef

Gusmão L, Alves C, Costa S, Amorim A, Brion M, González-Neira A, Carracedo A (2002) Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438. Int J Legal Med 116:322–326PubMed

10.

Clayton TM, Hill SM, Denton LA, Watson SK, Urquhart AJ (2004) Primer binding site mutations affecting the typing of STR loci contained within the AMPFlSTR1 SGM Plus^TM kit. Forensic Sci Int 139:255–259PubMedCrossRef

11.

Alves C, Gusmão L, Damasceno A, Soares B, Amorim A (2004) Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations. Forensic Sci Int 139:201–205PubMedCrossRef

12.

Whitaker JP, Cotton EA, Gill P (2001) A comparison of the characteristics of profiles produced with the AMPFISTR^® SGM Plus^TM multiplex system for both standard and low copy number (LCN) STR DNA analysis. Forensic Sci Int 123:215–223PubMedCrossRef

13.

Budowle B, Masibay A, Anderson SJ et al (2001) STR primer concordance study. Forensic Sci Int 124:47–54PubMedCrossRef

14.

Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE (2006) An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 16:1182–1190PubMedCrossRef

15.

Zarrabeitia MT, Alonso A, Martin J et al (2006) Study of six X-linked tetranucleotide microsatellites: population data from five Spanish regions. Int J Legal Med 120:147–150PubMedCrossRef

16.

Aler M, Sanchez-Diz P, Gomes I, Gisbert M, Carracedo A, Amorim A, Gusmão L (2007) Genetic data of 10 X-STRs in a Spanish population sample. Forensic Sci Int 173:193–196PubMedCrossRef

17.

Robino C, Giolitti A, Gino S, Torre C (2006) Development of two multiplex PCR systems for the analysis of 12 X-chromosomal STR loci in a northwestern Italian population sample. Int J Legal Med 120:315–318PubMedCrossRef

18.

Asamura H, Sakai H, Ota M, Fukushima H (2006) Japanese population data for eight X-STR loci using two new quadruplex systems. Int J Legal Med 120:303–309PubMedCrossRef

19.

Pereira R, Gomes I, Amorim A, Gusmão L (2007) Genetic diversity of 10 X chromosome STRs in northern Portugal. Int J Legal Med 121:192–197PubMedCrossRef

20.

Silva WA, Bortolini MC, Schneider MP, Marrero A, Elion J, Krishnamoorthy R, Zago MA (2006) MtDNA haplogroup analysis of black Brazilian and sub-Saharan populations: implications for the Atlantic slave trade. Hum Biol 78:29–41PubMedCrossRef

21.

Santos SEB, Guerreiro JF (1995) The indigenous contribution to the formation of the population of the Brazilian Amazon Region. Brazil J Genet 18:311–315

22.

Sambrook J, Fritsch EF, Maniatis T (1989) Isolations of DNA from mammalian cells. In: Ford N, Nolan C, Ferguson M (eds) Molecular cloning. Cold Spring Harbor Laboratory Press, New York, pp 916–919

23.

Excoffier L, Laval G, Schneider S (2006) Arlequin 3.1, An integrated software package for population genetics data analysis. University of Berne, Switzerland

24.

Geisler WS, Diehl RL (2003) A Bayesian approach to the evolution of perceptual and cognitive systems. Cogn Sci 27:379–402CrossRef

25.

Weale ME, Yepiskoposyan L, Jager RF et al (2001) Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group. Hum Genet 109:659–674PubMedCrossRef

26.

Desmarais D, Zhong, Chakraborty R, Perreault C, Busque L (1998) Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J Forensic Sci 43:1046–1049PubMed

27.

Bär W, Brinkmann B, Budowle B et al (1997) DNA recommendations. Further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. International Society for Forensic Haemogenetics. Int J Legal Med 110:175–176PubMedCrossRef

28.

Edelmann J, Deichsel D, Hering S, Plate I, Szibor R (2002) Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377. Forensic Sci Int 129:99–103PubMedCrossRef

29.

Szibor R, Edelmann J, Hering S et al (2003) Cell line DNA typing in forensic genetics—the necessity of reliable standards. Forensic Sci Int 138:37–43PubMedCrossRef

30.

Shin SH, Yu JS, Park SW, Min GS, Chung KW (2005) Genetic analysis of 18 X-linked short tandem repeat markers in Korean population. Forensic Sci Int 147:35–41PubMedCrossRef

31.

Gomes I, Prinz M, Pereira R et al (2007) Genetic analysis of three US population groups using an X-chromosomal STR decaplex. Int J Legal Med 121:198–203PubMedCrossRef

Titel: An INDEL polymorphism at the X-STR GATA172D05 flanking region
verfasst von: Elzemar Martins Ribeiro Rodrigues
Ney Pereira Carneiro dos Santos
Ândrea Kely Campos Ribeiro dos Santos
Anderson Nonato Marinho
Marco Antonio Zago
Iva Gomes
António Amorim
Leonor Gusmão
Sidney Emanuel Batista dos Santos
Publikationsdatum: 01.01.2009
Verlag: Springer-Verlag
Erschienen in: International Journal of Legal Medicine / Ausgabe 1/2009
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-008-0300-0

Springer Medizin

An INDEL polymorphism at the X-STR GATA172D05 flanking region

Abstract

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2009

Non-invasive prenatal paternity testing from maternal blood

Partial matches in heterogeneous offender databases do not call into question the validity of random match probability calculations

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

Sex determination from the foramen magnum: discriminant function analysis in an eighteenth and nineteenth century British sample

Differential diagnosis between freshwater drowning and saltwater drowning based on intrapulmonary aquaporin-5 expression

New markers for old stains: stable mRNA markers for blood and saliva identification from up to 16-year-old stains

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie