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01-01-2009 | Short Communication

An INDEL polymorphism at the X-STR GATA172D05 flanking region

Authors: 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

Published in: International Journal of Legal Medicine | Issue 1/2009

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.

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Title: An INDEL polymorphism at the X-STR GATA172D05 flanking region
Authors: 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
Publication date: 01-01-2009
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 1/2009
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-008-0300-0

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An INDEL polymorphism at the X-STR GATA172D05 flanking region

Abstract

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Abstract

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