Faculty of Forensic Medicine, Zhongshan Medical School, Sun Yat-sen University, 74# Zhongshan Road II, Guangzhou, 510089, People's Republic of China.
Int J Legal Med. 2012 Mar;126(2):331-5. doi: 10.1007/s00414-011-0630-1. Epub 2011 Oct 18.
Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D, D21S11, D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05) were studied for 6,441 parent-child meioses taken from the paternity testing cases in Chinese Han population. In total, 195 mutations were identified at 22 of the 24 loci. Among them, 189 (96.92%) mutations were one step, five mutations (2.56%) were two step, and one mutation (0.51%) was three step. No mutation was found at the TH01 and TPOX loci. The overall mutation rate estimated was 0.0013 (95% CI 0.0011-0.0015), and the locus-specific mutation rate estimated ranged from 0 to 0.0034. There was a bias in the STR mutations that repeat gains were more common than losses (∼1.7:1). Mutation events in the male germline were more frequent than in the female germline (∼4.3:1). Furthermore, loci with a larger heterozygosity tended to have a higher mutation rate. Mutation in short alleles was biased towards expansion, whereas mutation in long alleles favored contraction. The long alleles have a higher allelic mutational probability than short alleles.
对来自中国汉族人群亲子鉴定案例的 6441 次亲代减数分裂进行了 24 个短串联重复（STR）位点（TPOX、D3S1358、FGA、D5S818、CSF1PO、D7S820、D8S1179、TH01、vWA、D13S317、Penta E、D16S539、D18S51、Penta D、D21S11、D2S1772、D6S1043、D7S3048、D8S1132、D11S2368、D12S391、D13S325、D18S1364 和 GATA198B05）的种系突变进行了研究。在总共 24 个位点中，发现了 22 个位点的 195 个突变。其中，189 个（96.92%）突变是一步突变，5 个（2.56%）突变是两步突变，1 个（0.51%）突变是三步突变。TH01 和 TPOX 位点未发现突变。估计总体突变率为 0.0013（95%CI 0.0011-0.0015），估计的位点特异性突变率范围从 0 到 0.0034。STR 突变存在偏倚，重复增益比缺失更常见（约 1.7:1）。男性生殖细胞中的突变事件比女性生殖细胞中的更频繁（约 4.3:1）。此外，杂合度较大的位点往往具有较高的突变率。短等位基因的突变偏向于扩张，而长等位基因的突变倾向于收缩。长等位基因的等位基因突变概率高于短等位基因。
