Pseudo-exclusion from paternity due to maternal uniparental disomy 16 |
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| Authors: | G Bein B Driller M Schürmann P M Schneider H Kirchner |
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| Institution: | (1) Institute of Clinical Immunology and Transfusion Medicine, Justus-Liebig-University Langhansstrasse 7, 35392 Giessen, Germany Tel. + 49-641-99-41500; Fax + 49-641-99-41509 e-mail: gregor.bein@immunologie.med.uni-giessen.de, DE;(2) Institute of Immunology and Transfusion Medicine, University of Lübeck Medical School, Lübeck, Germany, DE;(3) Institute of Human Genetics, University of Lübeck Medical School, Lübeck, Germany, DE;(4) Institute of Legal Medicine, Johannes Gutenberg University, Mainz, Germany, DE |
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| Abstract: | The investigation of a case of disputed paternity revealed indirect exclusion of the alleged father in the haptoglobin system
and in the DNA single-locus system D16S309/Hinf I (MS205). The paternity index for the non-exclusion systems was > 106. Since both exclusion systems (HP and MS205) are located on chromosome 16, we investigated 10 microsatellite loci covering
this chromosome with 10–20 cM resolution. Analysis of the child’s chromosome showed only alleles of maternal origin and lack
of inheritance of paternal alleles for five informative loci. The markers close to the centromere of chromosome 16 were heterozygous,
whereas distal loci were either heterozygous or homozygous for maternal alleles. This is consistent with a maternal meiosis
I nondisjunction of chromosome 16 leading to maternal uniparental heterodisomy. This case emphasizes that the opinion of non-paternity
should be based on the absence of paternal alleles at genetic systems located on at least two different chromosomes.
Received: 23 December 1997 / Received in revised form: 9 February 1998 |
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| Keywords: | Uniparental disomy UPD Chromosome 16 Parentage testing |
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