Forensic studies on genetic markers in human urine

人类尿液中有许多有用的遗传标记。然而，这些标记在法医学领域的应用还不够充分。因此，本工作旨在为这些标记物在这一领域的广泛应用而设计。经聚丙烯酰胺凝胶等电聚焦电泳法(IEF-PAGE)后，用PGA特异性抗体进行免疫染色，可清晰检测尿PGA同工酶。PGA在凝胶上一般可分为五个组分，I-V。组份V由F和/或S带(S)组成。3种组份V(F、FS和S)的群体频率和家系研究表明，PGA V由一对常染色体上的等位基因PGAV^*F和PAGV^*S控制，且两者都是共显性的。该酶命名为RNase1。纯化的RNase1与人的尿液和血清以及纯化的酶反应。用IEF-PAGE分析血清RNase1的遗传多态性，并用RNase1的特异性抗体进行免疫染色。然而，在我们的样本中没有检测到其他同源表型RNASE 1 2。家系研究与这两个等位基因的常染色体共显性传递相一致。

There are many usefull genetic markers in human urine. However, these markers have not yet enough used in forensic science-field. So this work was designed in order to have a wide variety of applications in this field for these markers.Pepsinogen A (PGA) was purified from human urine by a series of column chromatographies. After isoelectric focusing electrophoresis on a polyacrylamide gel (IEF-PAGE), urinary PGA isozymogens could be clearly detected by means of immunostaining with the PGA-specific antibody. PGA was generally separable into five fractions, I-V, on the gel. Fraction V was composed of F and/or S band(s). The population frequencies of three patterns of fraction V (F, FS and S) and family studies indicatied that PGA V is controlled by a pair of alleles, PGAV^*F and PAGV^*S, at a single autosomal locus, and that both are codominant.One of the human urinary ribonucleases (RNases) was isolated and purified by means of a series of column chromatographies. The enzyme was named RNase 1. Rabbit antibody to the purified RNase 1 reacted with human urine and sera, as well as the purified enzyme. The genetic polymorphism of serum RNase 1 was studied by IEF-PAGE, followed by immunostaining using antibody specific for RNase 1. Two common phenotypes, RNASE1 1 and RNASE1 1-2, were easily recognized. However, the other homogeneous phenotypes, RNASE1 2, was not detected in our samples. Family studies are in agreement with an autosomal codominant transmission of the two alleles.