Polymorphism and sequence variations of the HumCD4 pentameric microsatellite in an Italian population sample
Tagliabracci, A
Instituto di Medicina Legale, Universita degli Studi di Ancona, Policliniico Torrette, Ancona, Italy.

Buscemi, L
Instituto di Medicina Legale, Universita degli Studi di Ancona, Policliniico Torrette, Ancona, Italy.

Bianchi, F
Instituto di Medicina Legale, Universita degli Studi di Ancona, Policliniico Torrette, Ancona, Italy.

Sassaroli, C
Instituto di Medicina Legale, Universita degli Studi di Ancona, Policliniico Torrette, Ancona, Italy.

Ricci, U
Servizio di Genetica Umana, Azienda Meyer, Universita di Firenze, Firenze, Italy.

Neri, TM
Cattedra di Genetica Medica, Universita di Parma, Ospedale Maggiore, Parma, Italy.

Rodriguez, D
Instituto di Medicina Legale, Universita degli Studi di Ancona, Policliniico Torrette, Ancona, Italy.


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. Sequencing 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.

Keywords:
DNA typing, forensic science, HumCD4, Italy, population genetics, sequencing analysis, short tandem repeats, structural variations

Paper ID: CH19841X

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Author Tagliabracci A, Buscemi L, Bianchi F, Sassaroli C, Ricci U, Neri TM, Rodriguez D Title Polymorphism and sequence variations of the HumCD4 pentameric microsatellite in an Italian population sample Symposium , Committee on