Mutation rate estimation for 15 autosomal STR loci in a large population from Mainland China.
STR, short tandem repeats, are well known as a type of powerful genetic marker and widely used in studying human population genetics. Compared with the conventional genetic markers, the mutation rate of STR is higher. Additionally, the mutations of STR loci do not lead to genetic inconsistencies between the genotypes of parents and children; therefore, the analysis of STR mutation is more suited to assess the population mutation. In this study, we focused on 15 autosomal STR loci. DNA samples from a total of 42,416 unrelated healthy individuals (19,037 trios) from the population of Mainland China collected between Jan 2012 and May 2014 were successfully investigated. In our study, the allele frequencies, paternal mutation rates, maternal mutation rates and average mutation rates were detected. Furthermore, we also investigated the relationship between paternal ages, maternal ages, area, the time of pregnancy and average mutation rate. We found that the paternal mutation rate was higher than the maternal mutation rate and the paternal, maternal, and average mutation rates had a positive correlation with paternal age, maternal age and the time of pregnancy respectively. Additionally, the average mutation rate of coastal areas was higher than that of inland areas.
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Zhuo
Z
Zhao
Beijing Entry-Exit Inspection Quarantine Bureau, No. 6 Tian Shui Yuan Street Chaoyang District Beijing, 100026 Beijing, China.
Jie
J
Zhang
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Hua
H
Wang
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Zhi-Peng
ZP
Liu
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Ming
M
Liu
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Yuan
Y
Zhang
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Li
L
Sun
Technical Center for Safety of Industrial Products, Tianjin Entry-Exit Inspection Quarantine Bureau, No. 2 Dong Wu Road Airport Economics Area Tianjin, 300308 Tianjin, China.
Hui
H
Zhang
Allele; China population; GD, genetic distance; Maternal mutation; Mutation rate; Parentage testing; Paternal mutation; SMM, step wise mutation model; STR, short tandem repeats; STRs; UPGMA, unweighted pair-group method with arithmetic means