| Objective: Short tandem repeats (STR) has the length polymorphism sequences widely exist in the human genome. It is the second generation of genetic markers. There is a great progress in recognizing the origin of human being with the development of the molecular biology. Especially by the fluorescence dye labeled STR multiplex amp- lification and automatic DNA sequencing apparatus, STR analysis could be standa- rdized with information device. MiniSTR is a kind of new technology for STR typing, it redesigned primer sequences, in order to make it close to the core repeats region, these new markers produce short PCR products. MiniSTR has demonstrated to be an effective approach to recover genetic information from degraded samples. In this article, preliminary genotype and allele frequency distribution of D1S1677, D2S441 and D4S2364 loci were investigated in Han ethnic in the northeast of China, and to discuss the anthropology, population genetics and forensic application of the three miniSTR loci.Methods: Genome DNA samples were extracted from whole blood of 138 healthy unrelated Han ethnic individuals from northeast of China by using chelex-100. Forward primers of D1S1677 was fluorescent dye labeled by TAMRA in 5'end, while locus D2S441was labeled by HEX, while locus D4S2364 was labeled by 6-FAM. Multiple fluorescent polymerase chain reaction(PCR)within the three loci were contained in one tube. The PCR products were analyzed by ABI 310 Genetic Analyzer. Allele frequencies were calculated by direct counting. PowerStatsV1.2 software was used to analyze heterozygosity, power of discrimination, polymorphism information content, power of exclusion and typical paternity index. Theχ2 test was used to analyze the Hardy–Weinberg equilibrium test. The Arlequin3.11 software package was use to compare population differentiation with previous studies of other countries and districts. Results: 1. 8 alleles and 15 genotypes of D1S1677 loci, 8 alleles and 20 genotypes of D2S441 loci, 5 alleles and 10 genotypes of D4S2364 loci, were observed in 138 individuals of Han ethnic in the northeast of China. The observational hetrozygosity(H) of the 3miniSTR(D1S1677, D2S441, D4S2364) was 0.746,0.833,0.768; polymo- rphism information content (PIC) was 0.59,0.70,0.61;discriminating power (DP) was 0.789,0.866,0.795; probability of exclusion (PE) was 0.504,0.662,0.541; typical paternity index (TPI) was 1.97,3.00,2.16; the combined DP was 0.994204; the combined PE was 0.923049. All loci were observed to be in Hardy–Weinberg equilibrium. 2. Comparison with other population: Comparison studies on allele frequencies of the 3 miniSTR were performed with other populations. Compared with East China, all the loci showed significant difference (P<0.05) with the exception of D2S441 locus (P=0.093); compared with Korean, all the loci showed no significant difference (P>0.05) with the exception of D2S441 locus (P=0.007); compared with Japanese, all the loci showed significant difference (P<0.05) with the exception of D2S441 locus (P=0.119); compared with Chinese Guangdong, all the loci showed significant difference (P<0.05); compared with Singapore Chinese, Malay and Indian, significant difference could be established in all of the loci (P<0.05); compared with Italy, Polish, Spanish, African American, Caucasian, and Hispanic, all the loci showed significant difference (P<0.05).Conclusion: 1. This study reveals the structure of the three loci and the obtained data are beneficial to understanding the population genetics in Chinese Han ethnic. 2. All loci have high the chance of exclusion and the discriminating power and they will be useful markers for individual identification and paternity test and for genetics and human palaeontology purposes. They can be used as efficiency supplement for CODIS system. |
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