Heide E, Heide K G, Rodewald A
Medical Laboratory for Haemogenetics, Kiel, Germany.
Am J Med Genet. 2000 Jun 5;92(4):260-3.
Serological and molecular (DNA-STR) analysis of a paternity case demonstrated exclusion of paternity of the presumptive father in two markers (ACP and Apo B, both localized on chromosome 2, region 2p25.2 and 2p23/24, respectively) in a phenotypically normal girl with a normal karyotype 46,XX (by GT-banding). The index of paternity calculated for other serological (seven erythrocyte antigens, six serum protein systems, and seven isozymes, as well as the A- and B-HLA loci) and nine DNA markers, excluding ACP and Apo B, gives a very high (virtually certain) degree of paternity for the presumptive father. Maternal uniparental disomy (UPD) for chromosome 2 was suspected. Evaluation of polymorphic DNA markers (STRs) spanning chromosome 2 of the child, mother, and presumptive father demonstrated that the girl had inherited two maternal chromosome 2 homologues, whereas alleles for markers from other chromosomes were inherited from the father in a Mendelian fashion. The girl was homoallelic for informative markers mapping to the chromosomal regions 2p23-25, but she was heteroallelic for informative markers on the long arm of chromosome 2, establishing that the maternal UPD with partial isodisomy of the short arm was caused by a meiosis I nondisjunction event with genetic recombination (chiasmata in this region 2p23-25) during oogenesis.
对一例亲子鉴定案例进行的血清学和分子（DNA-STR）分析表明，在一名表型正常、核型为46,XX（经GT显带）的女孩中，在两个标记（ACP和Apo B，分别定位于2号染色体的2p25.2区域和2p23/24区域）上排除了推定父亲的父权。针对其他血清学标记（七种红细胞抗原、六种血清蛋白系统和七种同工酶，以及A和B-HLA位点）和九个DNA标记（不包括ACP和Apo B）计算的父权指数显示，推定父亲具有非常高（几乎确定）的父权程度。怀疑存在2号染色体的母源单亲二体（UPD）。对跨越孩子、母亲和推定父亲2号染色体的多态性DNA标记（STR）进行评估表明，该女孩继承了两条母源2号染色体同源物，而来自其他染色体的标记等位基因以孟德尔方式从父亲那里继承。该女孩对于定位于染色体区域2p23 - 25的信息性标记是纯合等位基因，但对于2号染色体长臂上的信息性标记是杂合等位基因，这表明短臂部分等二体的母源UPD是由卵子发生过程中减数分裂I不分离事件与遗传重组（该区域2p23 - 25的交叉）引起的。
