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X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees

Title
X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees
Type
Article in International Scientific Journal
Year
2009
Authors
Iva Gomes
(Author)
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Mechthild Prinz
(Author)
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Rui Pereira
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Erik Bieschke
(Author)
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Wolfgang R. Mayr
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Antonio Amorim
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FCUP
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Angel Carracedo
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Leonor Gusmao
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FCUP
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Journal
Vol. 123
Pages: 143-149
ISSN: 0937-9827
Publisher: Springer Nature
Scientific classification
FOS: Medical and Health sciences > Other medical sciences
Other information
Authenticus ID: P-003-MV6
Abstract (EN): Qualitative information on the sequence composition of the allele and locus structure of the X-STRs DXS8378, DXS9898, DXS6789, GATA31E08, and GATA172D05 was generated in this study. Sequence data were obtained from chimpanzees (Pan troglodytes) and diverse human population groups including Africans, Caucasians, Asians, African-Americans, and Hispanics. Results revealed DXS8378 as the most stable locus. On the other hand, DXS9898 and GATA172D05 showed unstable regions identified through chimpanzee-human sequence comparison. At DXS6789, intra-allelic variation was found in all human populations, i.e., alleles with same fragment sizes showed structural differences only detected by sequencing. At the GATA31E08 locus, a previously unreported variation between humans and chimpanzees was identified in an adjacent region upstream from the repeat. This resulted in the addition of two repeat units and the proposal of a new allele nomenclature at this locus. Also, the sequence analyses did not detect ethnic differences between the studied population samples that would justify the use of these markers to help identify ethnic origin in an anthropological context.
Language: English
Type (Professor's evaluation): Scientific
Contact: igomes@ipatimup.pt
No. of pages: 7
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