Polymorphism and sequence variations of the HumCD4 pentameric microsatellite in an Italian population sample

J Forensic Sci. 1998 Jul;43(4):841-4.

Abstract

A sample of 265 subjects from central Italy was analyzed at the HumCD4 locus by polymerase-chain-reaction (PCR). Phenotypes were identified by comparison with a sequenced ladder, after high-resolution horizontal polyacrylamide gel electrophoresis (PAGE) followed by silver staining. A set of representative alleles was sequenced by Taq-cycle-sequencing with dye terminator labeling and capillary gel electrophoresis strategies. Eight common alleles--5, 6, 7, 8, 9, 10, 11, 12--and a rare larger 14, never before described in Caucasians, were found. Allele and genotype frequencies were similar to those described in former studies on Caucasians, with a prevalency of alleles number 5, 6, 10. Sequence analysis showed that the polymorphism is due to a pentameric TTTTC basic motif, tandemly repeated, and that from allele number 10 onwards the fourth repeat presents a T to C translation (CTTTC). Instead, allele number 9 may exist in two forms, because 75% of alleles examined in this study presented the CTTTC motif at the fourth position, while the remaining 25% had the basic repeat structure.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA Fingerprinting / methods
  • Electrophoresis, Polyacrylamide Gel
  • Gene Frequency
  • Genetic Markers
  • Genetic Variation*
  • Genotype
  • Humans
  • Italy
  • Microsatellite Repeats / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Sequence Analysis, DNA*

Substances

  • Genetic Markers