Zhang Xiaochuan, Ding Zhaojun, He Ruwen, Qi Jiying, Zhang Zijun, Cui Bin
Cytogenet Genome Res. 2019;157(4):197-202. doi: 10.1159/000499893. Epub 2019 Apr 17.
Uniparental disomy (UPD) is a rare type of chromosomal aberration that has sometimes been detected in paternity testing. We examined a 3-person family (father, mother, daughter) first by using short tandem repeat markers, which revealed 4 markers, TPOX, D2S1338, D2S1772, and D2S441, on chromosome 2 that were not transmitted in a Mendelian style. We then performed whole genome sequencing (WGS) to determine the range of the UPD. Chromosome 2 in the daughter showed a complete paternal UPD. To the best of our knowledge, this is the 4th case of complete paternal UPD of chromosome 2 with no clinical phenotype. Our study suggests that WGS, when performed to enhance the accuracy and reliability of parentage testing, can provide a powerful method to detect an UPD.
单亲二体（UPD）是一种罕见的染色体畸变类型，有时在亲子鉴定中被检测到。我们首先使用短串联重复标记对一个三口之家（父亲、母亲、女儿）进行检测，结果显示2号染色体上的4个标记，即TPOX、D2S1338、D2S1772和D2S441，未按孟德尔方式遗传。然后我们进行了全基因组测序（WGS）以确定UPD的范围。女儿的2号染色体显示出完全的父源UPD。据我们所知，这是第4例2号染色体完全父源UPD且无临床表型的病例。我们的研究表明，当进行WGS以提高亲子鉴定的准确性和可靠性时，它可以提供一种检测UPD的有力方法。
