title: Maternal identification from skeletal remains of an infant kept by the alleged mother for 16 years with DNA typing.
abstract: This is a case study concerning maternal identification by DNA typing at various loci. An infant skeleton was found in the alleged mother's apartment after it was kept for 16 years. We obtained the skeletal remains as well as saliva stains from the alleged mother. DNA typing was conducted for three loci in the HLA class II region (HLA-DQA1, -DPB1, and DRB1), five loci with the AmpliType PM kit (LDLR, GYPA, HBGG, D7S8, and GC), five STR loci (LPL, vWA, F13B, TH01, and TPOX) and D-loop region in mtDNA for maternal identification. Sex determination was accomplished using fluorescent DNA capillary electrophoresis typing. Approximately 5 ng of human DNA was recovered from 1 g of femur bone retrieved from the infant skeletal remains. The probability of two unrelated Japanese sharing the same genotypes was estimated as 7.2 x 10(-11). The combined probability of exclusion that an individual is not the mother was also calculated at 0.998. We therefore conclude that the skeleton is from a female infant, and that there is no inconsistency in the claim that the infant was a daughter of the alleged mother.
authors.affiliation: Department of Legal Medicine, Nagoya University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: R
authors.initials: R
authors.lastname: Uchihi
authors.forename: T
authors.initials: T
authors.lastname: Kojima
authors.forename: H
authors.initials: H
authors.lastname: Nozawa
authors.forename: X L
authors.initials: XL
authors.lastname: Huang
authors.forename: K
authors.initials: K
authors.lastname: Tamaki
authors.forename: Y
authors.initials: Y
authors.lastname: Katsumata
mesh_terms: D000328:Adult; D053523:Amelogenin; D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000032:analysis*; D003746:Dental Enamel Proteins / Q000235:genetics; D005260:Female; D005269:Femur / Q000737:chemistry*; D005819:Genetic Markers; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007237:Infanticide; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D012732:Sex Determination Analysis; D013997:Time Factors
chemical_list: D053523:Amelogenin; D004272:DNA, Mitochondrial; D003746:Dental Enamel Proteins; D005819:Genetic Markers; D000949:Histocompatibility Antigens Class II