Elucidation of apparent non-maternity with DNA probes detecting highly polymorphic single locus systems. 1991

G F Fischer, and W F Pickl, and I Faé, and V Pausch, and P Speiser
Institute for Blood Group Serology, University of Vienna, Austria.

During paternity testing, we encountered the following constellation in the Jk system: the mother's phenotype was Jk(a-b+), while the son was typed as Jk(a+b-). The deduced genotype of the mother would have been Jkb Jkb, and each offspring should then express the Jk(b) antigen. Consequently, non-maternity would be deduced. Since no material was available for extended family studies or HLA typing, except for the DNA of the propositi, only RFLP analysis could bring clarification in this case. The application of four highly polymorphic single locus probes proved the maternity and hence the existence of a Jk-Null allele. We conclude that direct testing at the DNA level may help resolving cases where, by conventional parentage testing, conclusive results are unachievable because of putative 'Null' alleles.

UI MeSH Term Description Entries
D007667 Kidd Blood-Group System A group of antigens consisting principally of Jk(a) and Jk(b), determined by allelic genes. Amorphs are encountered. Antibodies of these substances are usually weak and quite labile, stimulated by erythrocytes. Blood-Group System, Kidd,Kidd Blood Group System,System, Kidd Blood-Group
D008297 Male Males
D009035 Mothers Female parents, human or animal. Mothers' Clubs,Club, Mothers',Clubs, Mothers',Mother,Mother Clubs,Mother's Clubs,Mothers Clubs,Mothers' Club
D010334 Paternity Establishing the father relationship of a man and a child. Paternities
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies

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