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Title: Alu repeats as markers for forensic DNA analyses

Conference ·
OSTI ID:10136648
;  [1];  [2]
  1. Lawrence Livermore National Lab., CA (United States)
  2. Louisiana State Univ., New Orleans, LA (United States); and others

The Human-Specific (HS) subfamily of Alu sequences is comprised of a group of 500 nearly identical members which are almost exclusively restricted to the human genome. Individual subfamily members share an average of 98.9% nucleotide identity with the HS subfamily consensus sequence, and have an average age of 2.8 million years. We have developed a Polymerase Chain Reaction (PCR) based assay using primers complementary to the 5 inch and 3 inch unique flanking DNA sequences from each HS Alu that allow the locus to be assayed for the presence or absence of the Alu repeat. The dimorphic HS Alu sequences probably inserted in the human genome after the radiation of modem humans (within the last 200,000-one million years) and represent a unique source of information for human population genetics and forensic DNA analyses. These sites can be developed into Dimorphic Alu Sequence Tagged Sites (DASTS) for the Human Genome Project. HS Alu family member insertions differ from other types of polymorphism (e.g. Variable Number of Tandem Repeat [VNTR] or Restriction Fragment Length Polymorphism [RFLP]) in that polymorphisms due to Alu insertions arise as a result of a unique event which has occurred only one time in the human population and spread through the population from that point. Therefore, individuals that share HS Alu repeats inherited these elements from a common ancestor. Most VNTR and RFLP polymorphisms may arise multiple times in parallel within a population.

Research Organization:
Lawrence Livermore National Lab., CA (United States)
Sponsoring Organization:
USDOE, Washington, DC (United States); Department of Health and Human Services, Washington, DC (United States); Public Health Service, Washington, DC (United States); National Science Foundation, Washington, DC (United States)
DOE Contract Number:
W-7405-ENG-48
OSTI ID:
10136648
Report Number(s):
UCRL-JC-115967; CONF-940166-2; ON: DE94009104; CNN: Grant RO1 HG00340; HG 00770; BNS 90-20567
Resource Relation:
Conference: 1. forensic experts conference,Dubai (United Arab Emirates),8-10 Jan 1994; Other Information: PBD: Jan 1994
Country of Publication:
United States
Language:
English

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