The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China

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Abstract

Purpose

This study investigated the allelic frequency of 4 short terminal repeats (STRs) in Han and She populations from eastern China.

Methods

DNA samples from Han (N = 110) and She (N=110) healthy subjects were amplified using PCR and primers specific for the STRs. D21S11 and D21S1446 (chromosome 21) and D18S865 and D18S535 (chromosome 18). The frequency and homozygocity of different STRs were evaluated.

Results

For both populations, D21S11 and D18S535 were more polymorphic than D21S1446 and D18S865, and the D21S1446 1 allele was very common (48.6% and 55.0% for the Han and She groups, respectively).The Han and She groups significantly differed from one another in respect to the distribution of D21S11, D18S865, and D18S535 allelic frequency (all P -values≤0.48) but had a similar allelic distribution for D21S1446 (P=0.106). D21S1446 was found to be homozygous about 50% of the time which was significantly greater compared to the other STRs analyzed.

Conclusion

This study found that the Han and She differ genetically at 3 autosomal STRs located on chromosome 18 and 21. The STR D21S1146 was often homozygous within these groups, indicating it would be poor marker for analyzing trisomy within these populations.

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