Molecular Investigation of Transmission of Human Immunodeficiency Virus Type 1 in a Criminal Case

Retrovirus Laboratory, Department of Virology, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen S, Denmark.
Clinical and Diagnostic Laboratory Immunology (Impact Factor: 2.51). 10/2001; 8(5):884-90. DOI: 10.1128/CDLI.8.5.884-890.2001
Source: PubMed


Very few criminal cases involving human immunodeficiency virus type 1 (HIV-1) transmission have been described. We report on an HIV-1 transmission case with a child being infected by an HIV-1-positive man. The objective was to determine through molecular epidemiology and phylogenetic analyses whether HIV-1 from the HIV-1-positive man could be the source of infection in the HIV-1-positive child, as claimed by the authorities. We conducted genetic analysis of three different parts of the HIV-1 genome (gag, pol, and env) by PCR, direct-sequencing, and phylogenetic analyses. We used maximum likelihood, maximum parsimony, and neighbor-joining methods for the phylogenetic analyses to investigate whether the sequences from the man and the child were related. We found that the viral sequences from the man and the child formed separate clusters in all of the phylogenetic analyses compared to the local controls. A unique amino acid deletion was identified in the C2-V3-C3 region of the env gene in the virus from the man and the child. These results were used in the criminal court to elucidate whether the virus from the man was related to the virus from the child. In summary, the results from the phylogenetic analyses, the sequence distances between the virus from the man and the virus from the child, and the identification of the unique molecular fingerprint in the env gene together indicated that the virus from the man and the virus from the child were epidemiologically linked.

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    • "Molecular epidemiology analyses of rapidly evolving microorganisms have to be framed within evolutionary theory since only this provides the necessary concepts to ascertain proximal and distal relatedness from the observed genetic variation [18,19]. These principles have been successfully applied in previous cases of HIV transmission brought to courts [4,7,20,21] and to many other cases of HIV and HCV transmissions that did not lead to legal investigations [2,5,22-24]. However, none of these involved the investigation and analysis of a large number of potential recipients of the virus from the same source, which continued evolving during the long period in which infections occurred in the case considered here. "
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    • "Phylogenetic analyses have been increasingly used in attempts to clarify epidemiological relationships of HIV-1 infected patients (Abecasis et al., 2011; Albert et al., 1994; Arnold et al., 1995; Banaschak et al., 2000; Birch et al., 2000; Blanchard et al., 1998; de Oliveira et al., 2006; Goujon et al., 2000; Holmes et al., 1993; Leitner, 2000; Leitner et al., 1996; Lemey et al., 2005b; Lemey and Vandamme, 2005; Machuca et al., 2001; Metzker et al., 2002; Ou et al., 1992; Pistello et al., 2004; Salzberger et al., 2000; Yirrell et al., 1997), but there is a continuing discussion about their validity because convergent evolution and transmission of minor HIV variants may obscure epidemiological patterns (Lemey et al., 2005a). In this study we used multiple HIV-1 sequences datasets to compare the sensitivity of molecular epidemiology techniques – phylogenetic analysis methods and various phylogenetic programs – to correctly reconstruct epidemiological relationships among HIV-1 infected patients with different methods. "
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