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Elucidation of Apparent Non‐Maternity with DNA Probes Detecting Highly Polymorphic Single Locus Systems
Author(s) -
Fischer G. F.,
Pickl W. F.,
Faé I.,
Pausch V.,
Speiser P.
Publication year - 1991
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.1991.tb00899.x
Subject(s) - null allele , locus (genetics) , genetics , allele , offspring , biology , human leukocyte antigen , typing , genotype , dna , phenotype , antigen , gene , pregnancy
. 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 Jk b Jk b , 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.