摩洛哥人群中“父子”对17个Y染色体短串联重复序列（Y-STR）位点的突变率
Mutation rate at 17 Y-STR loci in "Father/Son" pairs from moroccan population.
作者信息
Laouina Adil, Nadifi Sellama, Boulouiz Redouane, El Arji Marzouk, Talbi Jalal, El Houate Brahim, Yahia Hakima, Chbel Faiza
机构信息
Service Biologie-Empreintes Génétiques, Laboratoire de Police Scientifique, 4 Rue Bnou Bouraid, Quartir Palmiers-Maarif, Casablanca, Morocco.
出版信息
Leg Med (Tokyo). 2013 Sep;15(5):269-71. doi: 10.1016/j.legalmed.2013.03.003. Epub 2013 Apr 25.
Precise knowledge of mutation rate at Y-STRs loci is essential for a correct evaluation of typing results in forensic casework and specially kinship genetic studies. In this study, we have examined 252 confirmed and unrelated father/son sample pairs from Moroccan population using the 17 Y-STR markers DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and Y-GATA-H4 of the AmpFlSTR Yfiler™ kit used in routine casework. We observed a total of 15 single repeat mutations between fathers and sons as mutational events. Nine mutations resulted in the gain of a repeat in the son and six resulted in a loss of a repeat. The average mutation rate in the studied sample is 3.5×10(-3) (95% CI 2-5.8×10(-3)). Furthermore, Y-STRs mutation occurrence seems to be 4 times more frequent than autosomal STRs mutation in this sample.
准确了解Y染色体短串联重复序列（Y-STR）位点的突变率，对于正确评估法医案件工作尤其是亲缘关系基因研究中的分型结果至关重要。在本研究中，我们使用常规案件工作中使用的AmpFlSTR Yfiler™试剂盒的17个Y-STR标记DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385a、DYS385b、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635和Y-GATA-H4，对来自摩洛哥人群的252对经确认的非亲属父子样本对进行了检测。我们共观察到父子之间有15个单重复突变作为突变事件。9个突变导致儿子中重复序列增加，6个导致重复序列减少。研究样本中的平均突变率为3.5×10（-3）（95%置信区间2-5.8×10（-3））。此外，在该样本中，Y-STRs突变的发生频率似乎是常染色体STRs突变的4倍。
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