Abstract

Recently, typing of polymorphisms on the X chromosome has become a standard technique in forensic genetics and a growing number of short tandem repeats (STR) has been established in this chromosome related to genetic population studies. Knowledge of marker recombination is very important especially when the X chromosome typing is used in forensic kinship analysis. It is known that the meiotic recombination is not a simple function of the physical distance between segments of the DNA but the recombination events between them tend to be clustered at special regions of the chromosome. Information on the rate of recombination among markers can be gathered by studying families through several generations. In this work we have typed DNA samples of pedigree consisting of nineteen families in Rio de Janeiro, constituted of grandfather, mother and grandson, and in some cases grandmother and aunt, and reported the recombination of 10 STR markers of the X chromosome. The study of the linkage analysis using the LOD score has shown that the marker pairs DXS8378-DXS7423, DXS7132-DXS9898, DXS7132-GATA172D05 DXS9898-DXS7133 and DXS6809-DXS7133 are not transmitted in a random way, during a recombination event.

Highlights

  • IntroductionHow to cite this paper: Chan, R., de Carvalho, E.F., de Aquino, J.G., da Silva, D.A. and Lôbo-Hajdu, G. (2014) Analysis of Linkage for Ten X-short tandem repeats (STR) Markers in a Rio de Janeiro (Brazil) Three-Generation Family Sample

  • The benchmark of using the X chromosome markers in the forensic practice can be found in the clinical geneticsHow to cite this paper: Chan, R., de Carvalho, E.F., de Aquino, J.G., da Silva, D.A. and Lôbo-Hajdu, G. (2014) Analysis of Linkage for Ten X-short tandem repeats (STR) Markers in a Rio de Janeiro (Brazil) Three-Generation Family Sample

  • Such paternal heritage pattern of the X chromosome to his daughters has become an additional method of using the X chromosome markers in the genetic kinship analysis

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Summary

Introduction

How to cite this paper: Chan, R., de Carvalho, E.F., de Aquino, J.G., da Silva, D.A. and Lôbo-Hajdu, G. (2014) Analysis of Linkage for Ten X-STR Markers in a Rio de Janeiro (Brazil) Three-Generation Family Sample. The method of substituting the individual STR markers by haplotypes can furnish useful tools when it is applied to kinship testing for individuals of the female gender. This is the reason of the importance of the analysis of linkage of X-STR markers using the LOD score [2]. Between the 16th and the 19th centuries Africans were brought to Brazil as slaves, and besides the Portuguese, other migratory waves occurred in the 19th and 20th centuries, mainly from Italy, Germany and Spain All these migratory events have contributed to the formation of a multiethnic highly mixed population. This heterogeneity is due to the nonuniform triethnic (European + African + Amerindian) pattern for the Brazilian population gene pool [3]

X-STR Amplification
Analysis of PCR Products
Results and Discussion
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