X-chromosomal haplotype frequencies of four linkage groups using the Investigator Argus X-12 Kit

Article Outline

• Conflict of interest
• Appendix A. Supplementary data
• References
• Copyright

Dear Editor,

The Investigator Argus X-12 Kit allows simultaneous amplification of 12 X-chromosomal STR loci which are highly informative for kinship and paternity testing, population genetics and anthropological studies. The markers of the Investigator Argus X-12 Kit are clustered into 4 linkage groups with 3 closely linked markers per group. For genotyping each set of markers should be handled as haplotype. Here we present first haplotype frequency data of a German population involving 1037 unrelated males.

The strategy of ChrX haplotyping is already well established and a lot of closely linked markers are known on ChrX [1], [2], [3], [4], [5]. In the case of genetic linkage or even linkage disequilibrium (LD) it is required to use haplotype frequencies. These cannot be calculated from allele frequencies but have to be estimated directly from appropriate male population samples [6].

ChrX haplotyping can be useful for solving complex kinship cases [7], [8].

The Investigator Argus X-12 Kit is a multiplex application that amplifies 12 X-chromosomal STR loci highly suited for paternity testing, forensic applications, as well as population genetics and anthropological studies. The increased discriminatory power of the kit meets the demands of complicated deficiency cases involving at least one female. The STR markers of the kit are belonging to four linkage groups (lg) with three markers per group. Therefore each set of markers must be handled as a haplotype for genotyping. Here we report haplotype frequency data of a German population involving 1037 males.

For estimation of haplotype frequencies 1037 anonymous DNA samples of unrelated German males with informed consent (vote 143/10 of the ethics committee, University of Freiburg, Germany) were tested using Investigator Argus X-12 Kit (Fa. Qiagen) according to the manufacturer's instructions. The samples used arise from males residing around Freiburg (n=300), Dresden (n=333) and Leipzig (n=404).

PCR products were analysed by capillary electrophoresis using ABI Prism 310 and 3130 sequencers. Allele designation was based on the allelic ladder included in the test kit.

Haplotype frequencies were counted for each linkage group:

Haplotyping results are summarised in Table 1 and detailed haplotype data are shown in Table 2a, Table 2b, Table 2c, Table 2d.

Table 1. Distribution of STR haplotypes for the ChrX linkage groups (n=1037 males).

Table 2a. Haplotype frequencies on ChrX linkage group I (n=1037 males).

Table 2b. Haplotype frequencies on ChrX linkage group II (n=1037 males).

Table 2c. Haplotype frequencies on ChrX linkage group III (n=1037 males).

Table 2d. Haplotype frequencies on ChrX linkage group IV (n=1037 males).