Development of the nine X-STR loci typing system and genetic analysis in three nationality populations from China

Abstract

This study is to develop a new multiplex polymerase chain reaction (PCR) system that simultaneously amplifies the nine X-chromosome short tandem repeats loci in the same PCR reaction, and to explore their polymorphism and mutation rate among three nationality populations from China. These loci included DXS6854, DXS9902, DXS6809, GATA172D05, HPRTB, DXS7423, DXS6807, DXS8378, and DXS8377. The samples of 890 (484 males and 406 females) unrelated individuals from Guangdong Han population, Xinjiang Uigur, and Inner-Mongolia Mongol were successfully analyzed using this multiplex system. The allele frequencies and mutation rates of the nine loci were investigated, and the comparison of allele frequency distribution among different populations was performed. There were 87 alleles for all the loci, and six to 18 alleles for each locus observed by our new multiplex PCR system. Polymorphism information content was 0.4998-0.9101, and power of discrimination in females was 0.6518-0.9846. Five cases with mutation of above loci were detected in 5,310 meioses. Pair-wise comparisons of allele frequencies distribution showed significant differences for most loci among different populations. Our results indicate that this multiplex system is very useful for identification analysis, and that the information about polymorphism and mutation rate is necessary for forensic application in three nationality populations from China.

Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

“…The one-sided mutation rate  was set equal to 0.001 for all markers, which represents an average of recent estimates for X-STRs [20,21], and which also agrees well with the findings of the present study (see Supplementary Table 1). In fact, we observed 8 mutations in 10,290 informative meioses, which corresponds to a two-sided  of 7.810 -4 (Table 3).…”

Polymorphism of the Microsatellite DXS8377 in a Population of Northern Thai Males

“…Allele 48 was the third frequent in this study with the allele frequency of 0.1450, as shown in Table 2 and Figure 2. This result is similar to the analysis of DXS8377 in populations of Chinese, Japanese and Inner-Mongolia Mongol (China), in which allele 48 was also the third frequent (Table 3) [5,16,17]. Allele 50 was the fourth frequent in this study with the allele frequency of 0.1200, as shown in Table 2 and Figure 2.…”

“…Previous studies also found allele 51 to be subordinate, including the genetic analysis in populations of Han Chinese, Galicians (Spain) and Slovakians, as shown in Table 3 [7,17,20]. Allele 48 was the third frequent in this study with the allele frequency of 0.1450, as shown in Table 2 and Figure 2.…”

“…When comparing the results of this research to previous studies that analyzed X-STR DXS8377 in other populations, allele 49 was found in all of the populations studied (Table 3) [4,5,[15][16][17][18][19][20][21].…”

“…Interestingly, allele 49 was common among various populations as it was also the most frequent in Japanese, Xinjiang Uigur and InnerMongolia Mongol (China), Korean, German, Italian and Galician (Spain) populations [5,7,[15][16][17][18][19] (Table 3 and Figure 3). …”