Genetic and chromosomal variation-caused inconsistencies in two parental tests

Two special cases were reported where inconsistency between children and the fathers were observed at FGA locus. Regular additional STR tests were performed and no more inconsistency was observed in the first case. Through the following TA cloning and sequencing, the first case turned to be a two-step mutation between child and father. In the second case, however, one more inconsistency was found in the additional test at D4S2366, which was on Chr. 4 as well. Then, seven randomly selected STR-loci on Chromosome 4 were analyzed, indicating a possible maternal uniparental disomy (UPD) in the child with normal phenotype.

Source: Forensic Science International: Genetics Supplement Series - October 30, 2019 Category: Forensic Medicine Authors: Chen Li, Yifan Li, Li Jia, Chong Chen, Shi Yan, Chuguang Chen, Yacheng Liu, He Ren Source Type: research