Ge Jianye, Budowle Bruce, Aranda Xavier G, Planz John V, Eisenberg Arthur J, Chakraborty Ranajit
Department of Biomedical Engineering, University of Cincinnati, Cincinnati, OH 45221, USA.
Forensic Sci Int Genet. 2009 Jun;3(3):179-84. doi: 10.1016/j.fsigen.2009.01.007. Epub 2009 Feb 14.
Father-son pairs from three populations (African American, Caucasian, and Hispanic) of Texas were typed for the 17 Y STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR YfilerTM kit. With 49,578 allele transfers, 102 mutations were detected. One three-step and four two-step mutations were found, and all others (95.1%) were one-step mutations. The number of gains (48) and losses (54) of repeats were nearly similar. The average mutation rate in the total population is 2.1 x 10(-3) per locus (95% CI (1.7-2.5)x10(-3)). African Americans showed a higher mutation rate (3.0 x 10(-3); 95% CI (2.4-4.0)x10(-3)) than the Caucasians (1.7 x 10(-3); 95% CI (1.1-2.5)x10(-3)) and Hispanics (1.5 x 10(-3); 95% CI (1.0-2.2)x10(-3)), but grouped by repeat-lengths, such differences were not significant. Mutation is correlated with relative length of alleles, i.e., longer alleles are more likely to mutate compared with the shorter ones at the same locus. Mutation rates are also correlated with the absolute number of repeats, namely, alleles with higher number of repeats are more likely to mutate than the shorter ones (p-value=0.030). Finally, occurrences of none, one, and two mutations over the father-son transmission of alleles were consistent with the assumption of independence of mutation rates across loci.
使用AmpFlSTR YfilerTM试剂盒，对来自德克萨斯州三个群体（非裔美国人、白种人和西班牙裔）的父子对进行了17个Y染色体短串联重复序列（Y STR）标记DYS19、DYS385、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS437、DYS438、DYS439、DYS456、DYS458、DYS635、DYS448和Y GATA H4的分型。在49578次等位基因传递中，检测到102次突变。发现1次三步突变和4次两步突变，其余所有突变（95.1%）均为一步突变。重复序列的增加（48次）和减少（54次）数量几乎相近。总群体中的平均突变率为每个位点2.1×10⁻³（95%置信区间（1.7 - 2.5）×10⁻³）。非裔美国人的突变率（3.0×10⁻³；95%置信区间（2.4 - 4.0）×10⁻³）高于白种人（1.7×10⁻³；95%置信区间（1.1 - 2.5）×10⁻³）和西班牙裔（1.5×10⁻³；95%置信区间（1.0 - 2.2）×10⁻³），但按重复长度分组后，这种差异并不显著。突变与等位基因的相对长度相关，即与同一基因座上较短的等位基因相比，较长的等位基因更易发生突变。突变率也与重复序列的绝对数量相关，也就是说，重复序列数量较多的等位基因比短等位基因更易发生突变（p值 = 0.030）。最后，在父子等位基因传递过程中无突变、1次突变和2次突变的发生情况与各基因座突变率独立性的假设一致。
