Detection of a novel X-chromosomal short tandem repeat marker in Xq28 in four ethnic groups

• We performed detection and population genetic study of a novel tetranucleotide X-STR locus in the present study.
• We identified a unique X-STR locus consisting of two tetranucleotides in Xq28.
• We analyzed DNA sequences and allele frequencies of four ethnic groups.
• There were differences in the DNA sequence of this locus among ethnic groups.

DNA testing of X-chromosomal short tandem repeat (X-STR) polymorphisms has been the focus of attention in several studies, mainly due to its applicability in the investigation of complex kinship cases. Studies of X-STR in analyses of DNA sequences, population studies and DNA testing applications have been reported. We performed detection and population genetic study of a novel tetranucleotide X-STR locus in the present study. We identified a unique X-STR locus consisting of two tetranucleotides in Xq28. Although the STR is a simple tetranucleotide, its polymorphism was comparatively high [polymorphism information content (PIC) = 0.7140] in Japanese subjects. In addition, the STR varied in structure among ethnic groups. We conclude that this locus will be useful for forensic DNA testing and anthropological studies.

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