POLYMORPHIC HUMAN SPECIFIC ALU INSERTIONS AS MARKERS FOR HUMAN IDENTIFICATION

Alu sequences represent the largest family of short interspersed repet itive elements (SINEs) in humans with 500 000 copies per genome. Recen tly, one Alu subfamily was found to be human specific (HS). We origina lly described the use of polymorphic PIS Alu insertions as a tool in p opulation studies and recently as tools in DNA fingerprinting and fore nsic analysis. In this report, we will use this simple polymerase chai n reaction (PCR) base technique for the detection of HS Alu insertion polymorphisms. We will test the resolving power of this DNA profiling approach in both population genetics and paternity assessment. At the population level, we will describe the genotypic distribution of five polymorphic Alu insertions among 3 populations from the American conti nent, one of African origin, the other two Amerindians. Insight into t heir relationships will be provided. At the family level, we will exam ine one European American family of seven individuals and the same ped igree will also be characterized by way of the two systems currently a nd widely used to ascertain paternity: PCR-sequence specific oligonucl eotide probe hybridization (PCR-SSO) and PCR-restriction fragment leng th polymorphism (PCR-RFLP) of human leucocyte antigen (HLA) class II m olecules, and a standard RFLP protocol used in forensic casework and p aternity studies. The importance and strengths of the method as well a s its perspectives for future use in filiation studies will be evaluat ed.