Dumache Raluca, Puiu Maria, Parvanescu Ramona, Rogobete A F, Enache Alexandra
Clin Lab. 2019 Sep 1;65(9). doi: 10.7754/Clin.Lab.2019.190207.
Genetic markers are routinely used in human identification of paternity, maternity, and kinship cases. We describe a DNA paternity case with one mismatch on SE33 locus between the alleged father (AF) and the child (daughter). Because there was a father-daughter relationship to solve this case we used chromosome X-STRs markers too.
As reference samples we used saliva collected from inside the cheek of each person using buccal swabs (Copan, Italy). The DNA samples were quantified on a 7500 ABI real-time PCR using the Investigator Quantiplex Pro Kit (Qiagen, Germany). Salivary DNA samples were amplified on a ProFlex PCR System (ThermoFischer, USA) using the multiplex STR markers from the AmpF/STR® NGM Select PCR Amplification Kit (Thermo-Fischer, USA) and Investigator® Argus X-12 QS kit markers (Qiagen, Germany). PCR products were run on capillary electrophoresis on an ABI 3500 Genetic Analyzer (ThermoFischer, USA).
The AF was excluded from paternity on STRs markers due to one mismatch on SE33 locus. To confirm or exclude the paternity, we used the chromosome X-STRs markers, obtaining a perfect match between the AF and his daughter.
In paternity testing, where one or two mismatches are present between the child (daughter) and the AF on different loci on STR markers, the use of chromosome X-STRs is needed for the confirmation or exclusion of paternity.
基因标记常用于亲子鉴定、亲权鉴定和亲属关系鉴定等人类身份识别案件中。我们描述了一起DNA亲子鉴定案例,在所谓的父亲(AF)和孩子(女儿)之间的SE33基因座上存在一个不匹配。由于要解决的是父女关系案件,我们也使用了X染色体短串联重复序列(X-STR)标记。
作为参考样本,我们使用意大利Copan公司的口腔拭子从每个人的口腔内侧采集唾液。使用德国Qiagen公司的Investigator Quantiplex Pro试剂盒,在7500 ABI实时PCR仪上对DNA样本进行定量。使用美国Thermo-Fischer公司的AmpF/STR® NGM Select PCR扩增试剂盒中的多重STR标记和德国Qiagen公司的Investigator® Argus X-12 QS试剂盒标记,在ProFlex PCR系统(美国ThermoFischer公司)上对唾液DNA样本进行扩增。PCR产物在ABI 3500遗传分析仪(美国ThermoFischer公司)上进行毛细管电泳。
由于在SE33基因座上存在一个不匹配,AF被STR标记排除亲子关系。为了确认或排除亲子关系,我们使用了X染色体STR标记,结果显示AF与其女儿完全匹配。
在亲子鉴定中,当孩子(女儿)与AF在STR标记的不同基因座上存在一两个不匹配时,需要使用X染色体STR标记来确认或排除亲子关系。