title: Concurrent copy number variations on chromosome 8 and 22 combined with mutation at FGA locus revealed in a parentage testing case.
abstract: Copy number variations (CNVs) are one of the major sources of human genetic diversity and are associated with rare genomic disorders as well as complex traits and diseases. A copy number variation was observed at the D8S1179 locus during routine STR based parentage testing, in which the child exhibited three alleles, "13, 15, 16", with the putative father a homozygous "15" and the mother homozygous "13". In addition, in the same testing case, there was a one-step mutation at the STR locus FGA, in which the putative father was a "22, 24", the mother was a "22, 25", and the child was a "22, 23". After further investigations by re-amplified with different primer sets, clone-based sequencing, karyotype analysis and whole-genome SNP analysis, the results showed that the child had the CNVs at chromosome 8q24.3 and 22q11.21. In conclusion, for parentage testing cases encountered with tri-allele patterns, more testings, such as cloning sequencing, karyotyping, or even whole genome analysis, as well as more appropriate statistical estimations might be conducted to further confirm or exclude the relationship.
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Yaran
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Beijing Police Colle, Beijing, China.
authors.forename: He
authors.initials: H
authors.lastname: Ren
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China; University of Chinese Academy of Sciences, Beijing, China.
authors.forename: Bingbing
authors.initials: B
authors.lastname: Xie
authors.affiliation: BaYi Children's Hospital, General Military Hospital of Beijing PLA, Beijing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Beijing Tongda Shoucheng Institute of Forensic Science, Beijing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Beijing Tongda Shoucheng Institute of Forensic Science, Beijing, China.
authors.forename: Chong
authors.initials: C
authors.lastname: Chen
authors.affiliation: Beijing Microread Genetics Co., Ltd, Beijing, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Li
authors.affiliation: Beijing Microread Genetics Co., Ltd, Beijing, China.
authors.forename: Le
authors.initials: L
authors.lastname: Yi
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Fang
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute ofGenomics, Chinese Academy of Sciences, Beijing, China. Electronic address: yanjw@big.ac.cn.
authors.forename: Jiangwei
authors.initials: J
authors.lastname: Yan
mesh_terms: D000293:Adolescent; D000328:Adult; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010334:Paternity; D020641:Polymorphism, Single Nucleotide
keywords: Copy number variations; Mutation; Paternity testing; Short tandem repeats; Tri-allele