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Development of the X-linked tetrameric microsatellite markers HumDXS6803 and HumDXS9895 for forensic purpose

https://doi.org/10.1016/S0379-0738(03)00077-XGet rights and content

Abstract

This paper presents sequence and population genetic data of the X-linked DXS6803 and DXS9895 short tandem repeat (STR). The tetranucleotide repeat polymorphism DXS6803 (also known as CHLC.GATA45H11) and DXS9895 (also known as CHLC.GATA124B04) are located at the Xq12-Xq21.33 and Xpter-Xp22.2 region, respectively. In kinship testing, DXS6803 and DXS9895 are suitable for concomitant use. Population genetic data were obtained by analyzing 182 unrelated females and 110 males from Chinese Han population. In this population, both DXS6803 and DXS9895 exhibited seven clearly distinguishable alleles ranging from 109 bp to 128 bp and 139 bp to 163 bp in length, respectively. Testing for Hardy–Weinberg equilibrium (HWE) showed no significant deviation for these two loci. The polymorphism information content (PIC), observed heterozygosity (Hobs) and power of exclusion for parentage testing of a girl for trios (PEtrio) and duos (PEduo) were 0.67, 0.687, 0.673 and 0.530 for DXS6803, and 0.69, 0.736, 0.688 and 0.547 for DXS9895, respectively. Seventy-eight families studies of these two loci confirmed X-linked codominant inheritance and mutations were not found.

Introduction

Nowadays, autosomal short tandem repeat (STR) markers are widely applied to forensic individual identification and paternity testing. However, in some special cases, for example, the alleged father cannot be typed but the relatives of the alleged father can be investigated, or identified whether presumptive half-sister have the same father but the mother cannot be tested, the investigation of gonosomal markers may be more informative than the investigation of autosomal polymorphisms.

Over the past few years, many STR loci on the Y chromosome have been studied [1], [2], [3], [4], [5] but the number of forensically evaluated X-linked STRs offered is very low. To our knowledge, only less than 20 X-linked markers have been described for forensic applications so far [6], [7], [8], [9], [10], [11], [12], [13], [14], [15]. The aim of this paper is to continue studying the STR HumDXS9895, and add the STR HumDXS6803 to the panel of forensically used X markers.

Section snippets

Sample preparation

Blood samples were collected from 292 unrelated healthy blood donors (182 females, 110 males) of Han population living in Wuhan, China. Seventy-eight family trios including female children were checked for regular X-chromosomal inheritance. DNA was isolated using the Chelex-100 method [16].

PCR amplification and STR typing

Primers were synthesized by Sangon Biotech. Co. Ltd. (China) according to the sequence published on GenBank (http://www.gdb.org):

DXS68035′-GAA ATG TGC TTT GAC AGG AA-3′
5′-CAA AAA GGG ACA TAT GCT ACT T-3′

Marker information

HumDXS6803 and HumDXS9895 are two unpublished human sequence-tagged site (STS) submitted to the Cooperative Human Linkage Center by J. Murray, V. Sheffield, J.L. Weber, G. Duyk and K.H. Buetow in 1995 (gene bank information). HumDXS6803 is also known as GATA45H11, CHLC.GATA45H11.#T14714 and GDB: G00-365-317 and HumDXS9895 is also known as GATA124B04, CHLC.GATA124B04.T35220. The molecular localization of HumDXS6803 and HumDXS9895 are described with DXS453-DXS3 and pter-DXS207, respectively (gene

Conclusions

The reported population genetic data of the DXS6803 and DXS9895 polymorphisms suggest that these two markers are of interest for forensic analysis. DXS6803 and DXS9895 are suitable for concomitant use in kinship testing without limitations. Further population genetic studies should be conducted with the aim to confirm a low mutation rate. The verification of these results would qualify these two markers as useful tool for solving special cases of kinship testing.

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