CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, No.1 Beichen West Road, Chaoyang District, Beijing, 100101, People's Republic of China.
University of Chinese Academy of Sciences, Beijing, 100049, People's Republic of China.
Int J Legal Med. 2019 Jul;133(4):993-997. doi: 10.1007/s00414-018-1857-x. Epub 2018 May 25.
We present a duo paternity test case to assess the biological relationship between a woman and her female child. After analyzing 57 autosomal and 19 X-chromosomal short tandem repeat loci, mother-daughter exclusions were discovered at four loci, which were all located on chromosome 2. Further testing of whole-genome single nucleotide polymorphisms confirmed that the daughter had complete uniparental disomy (UPD) of chromosome 2. This study presents a cautionary case demonstrating that hasty decisions of parentage exclusion should not be made when genetic markers on the same chromosome do not conform to Mendel's laws due to UPD.
我们呈现了一个双重亲子鉴定案例，以评估一名女性与其女性子之间的生物学关系。在分析了 57 个常染色体和 19 个 X 染色体短串联重复序列基因座后，在四个基因座发现了母亲-女儿排除现象，这些基因座均位于 2 号染色体上。进一步对全基因组单核苷酸多态性的检测证实，女儿的 2 号染色体完全存在单亲二倍体现象。本研究呈现了一个警示性案例，由于单亲二倍体现象，当同一染色体上的遗传标记不符合孟德尔定律时，不应草率地做出亲子关系排除的决定。
