基于有限突变模型和大规模数据的19个常染色体STR的实际突变率研究

刘志勇, 任贺, 陈冲, 张京晶, 张晓梦, 石妍, 石林玉, 陈滢, 程凤, 贾莉, 陈曼, 范庆炜, 张家榕, 李万婷, 王萌春, 任子林, 刘雅诚, 倪铭, 孙宏钰, 严江伟

Actual mutational research of 19 autosomal STRs based on restricted mutation model and big data

Liu Zhiyong, Ren He, Chen Chong, Zhang Jingjing, Zhang Xiaomeng, Shi Yan, Shi Linyu, Chen Ying, Cheng Feng, Jia Li, Chen Man, Fan Qingwei, Zhang Jiarong, Li Wanting, Wang Mengchun, Ren Zilin, Liu Yacheng, Ni Ming, Sun Hongyu, Yan Jiangwei

表1 三联体与二联体STR基因座特异性实际突变率

Table 1 The total STR loci-specific actual mutation rates in trio's and duo's

基因座 三联体 二联体 Fμ Mμ 平均μ Fμ Mμ 平均μ CSF1PO 0.00449100 0.00089800 0.00269450 0.00379500 0.00115200 0.00247350 D12S391 0.00674500 0.00188500 0.00431500 0.00532800 0.00000000 0.00266400 D13S317 0.00197200 0.00089900 0.00143550 0.00310500 0.00094300 0.00202400 D16S539 0.00246100 0.00073900 0.00160000 0.00164200 0.00049800 0.00107000 D18S51 0.00524900 0.00140400 0.00332650 0.00309400 0.00075100 0.00192250 D19S433 0.00222300 0.00123300 0.00172800 0.00158100 0.00096000 0.00127050 D1S1656 0.00264300 0.00120200 0.00192250 0.00195900 0.00000000 0.00097950 D21S11 0.00255700 0.00201239 0.00228470 0.00203300 0.00123400 0.00163350 D2S1338 0.00273800 0.00047700 0.00160750 0.00120300 0.00000000 0.00060150 D3S1358 0.00160539 0.00073400 0.00116970 0.00149600 0.00097800 0.00123700 D5S818 0.00274700 0.00092600 0.00183650 0.00610000 0.00061700 0.00335850 D7S820 0.00325000 0.00050900 0.00187950 0.00149800 0.00045500 0.00097650 D8S1179 0.00443800 0.00081000 0.00262400 0.00368100 0.00000000 0.00184050 FGA 0.00767100 0.00151000 0.00459050 0.00573600 0.00116100 0.00344850 Penta D 0.00182500 0.00049400 0.00115950 0.00243100 0.00048900 0.00146000 Penta E 0.00513100 0.00237900 0.00375500 0.00525600 0.00158700 0.00342150 TH01 0.00022611 0.00010000 0.00016306 0.00077600 0.00047100 0.00062350 TPOX 0.00007700 0.00007700 0.00007700 0.00000000 0.00000000 0.00000000 vWA 0.00600600 0.00108800 0.00354700 0.00074900 0.00090900 0.00082900 Total 0.06405550 0.01937639 0.04171595 0.05146300 0.01220500 0.03183400