ISSN: 0022-1198
CODEN: JFSCA
Page Count: 4

Polymorphism and Sequence Variations of the HumCD4 Pentameric Microsatellite in an Italian Population Sample
Tagliabracci, A
Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette,

Sassaroli, C
Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette,

Rodriguez, D
Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette,

Bianchi, F
Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette,

Buscemi, L
Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette,

Neri, TM
Cattedra di Genetica Medica, Università di Parma, Ospedale Maggiore,

Ricci, U
Servizio di Genetica Umana, Azienda Meyer, Università di Firenze,

(Received 17 June 1997; accepted 5 December 1997)

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.

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

Paper ID: JFS14316J
DOI: 10.1520/JFS14316J
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