Timasheva Ya R, Tuktarova I A, Gizullina L I, Sundyrev E Yu, Mustafina O E
Physiological Genetics Laboratory of the Institute of Biochemistry and Genetics of the Ufa Branch of the Russian Academy of Sciences, Ufa, Russia 450054; Department of Medical Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russia 450000.
Physiological Genetics Laboratory of the Institute of Biochemistry and Genetics of the Ufa Branch of the Russian Academy of Sciences, Ufa, Russia 450054; OOO Into Steel, Ufa, Russia, 450044.
Sud Med Ekspert. 2019;62(4):19-21. doi: 10.17116/sudmed20196204119.
The amelogenin gene encodes dental enamel protein and is present in humans in two forms - AMELX and AMELY, located on the X- and Y-chromosomes, respectively. This rare case depicts a partial deletion of the AMELY gene. In the Into-Stil LLC laboratory, we performed the genetic testing of the DNA samples extracted from buccal epithelial cells of the alleged father and the disputed child (a boy). Genotyping was carried out using COrDIS Plus ('Gordis', Russian Federation) and AmpFLSTR Identifiler Direct PCR Amplification ('Applied Biosystems', USA) Kits. Our findings have demonstrated that both the alleged father and the disputed child lacked the fragments corresponding with the AMELY gene. Using both STR-systems, we detected, in the disputed child's genome, the allele formally identical to the allele in the genome of the alleged father. Further analysis using the COrDYS ('Gordis', Russian Federation) kit allowed us to detect the amplified fragments corresponding with all the STR loci of Y chromosome, except DYS576 and DYS449, which confirmed that both studied individuals belonged to male biological sex.
釉原蛋白基因编码牙釉质蛋白，在人类中有两种形式——AMELX和AMELY，分别位于X染色体和Y染色体上。这个罕见病例表现为AMELY基因的部分缺失。在Into-Stil LLC实验室，我们对从所谓父亲和争议儿童（一名男孩）的颊黏膜上皮细胞中提取的DNA样本进行了基因检测。使用COrDIS Plus（“Gordis”，俄罗斯联邦）和AmpFLSTR Identifiler直接PCR扩增试剂盒（“应用生物系统公司”，美国）进行基因分型。我们的研究结果表明，所谓的父亲和争议儿童都缺少与AMELY基因相对应的片段。使用这两种STR系统，我们在争议儿童的基因组中检测到与所谓父亲基因组中的等位基因形式上相同的等位基因。使用COrDYS（“Gordis”，俄罗斯联邦）试剂盒进行的进一步分析使我们能够检测到除DYS576和DYS449之外与Y染色体所有STR位点相对应的扩增片段，这证实了两个被研究个体均属于男性生物学性别。
