title: Loss of heterozygosity detected at three short tandem repeat locus commonly used for human DNA identification in a case of paternity testing.
abstract: Short tandem repeat (STR) is widely used for DNA profiling in forensic sciences for its stable inheritance. Genomic variations in STR loci may affect the results of the genotyping. In this study, using STR profiling and genome-wide chromosomal microarray assay, we detected the incidence of uniparental disomy or copy-neutral loss of heterozygosity (LOH) in a case of a parental testing, which altered the genotype of three commonly used STR markers including D2S1338, D2S441 and D2S1776. To the best of our knowledge, this is the first time found that LOH affect the genotyping of STR markers commonly used for paternity testing. Our findings demonstrated that the incidence of LOH in the genome may dramatically alter the results of DNA identification, and suggested that genomic structure variation need to be taking into consideration in the DNA identification using STR markers.
authors.affiliation: Henan Provincial Research Institute for Population and Family Planning, Zhengzhou 450002, PR China; Key Laboratory of Birthdefects Prevention, National Health and Family Planning Commission, Zhengzhou 450002, PR China.
authors.forename: Shiyuan
authors.initials: S
authors.lastname: Zhou
authors.affiliation: Henan Provincial Research Institute for Population and Family Planning, Zhengzhou 450002, PR China; Key Laboratory of Birthdefects Prevention, National Health and Family Planning Commission, Zhengzhou 450002, PR China.
authors.forename: Haili
authors.initials: H
authors.lastname: Wang
authors.affiliation: College of Life Science and Technology and Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, Huazhong University of Science and Technology, Wuhan 430074, PR China.
authors.forename: Qing K
authors.initials: QK
authors.lastname: Wang
authors.affiliation: Department of Clinical Laboratory, Liyuan Hospital, Huazhong University of Science and Technology, Wuhan 430074, PR China.
authors.forename: Pengyun
authors.initials: P
authors.lastname: Wang
authors.affiliation: Henan Provincial Research Institute for Population and Family Planning, Zhengzhou 450002, PR China; Key Laboratory of Birthdefects Prevention, National Health and Family Planning Commission, Zhengzhou 450002, PR China. Electronic address: wangfengyu1979@163.com.
authors.forename: Fengyu
authors.initials: F
authors.lastname: Wang
authors.affiliation: College of Life Science and Technology and Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, Huazhong University of Science and Technology, Wuhan 430074, PR China. Electronic address: cqxu@mail.hust.edu.cn.
authors.forename: Chengqi
authors.initials: C
authors.lastname: Xu
mesh_terms: D016172:DNA Fingerprinting / Q000379:methods*; D053803:Forensic Genetics / Q000379:methods*; D005838:Genotype; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D018895:Microsatellite Repeats; D010334:Paternity