Volume 43, Issue 4 (July 1998)

    Polymorphism and Sequence Variations of the HumCD4 Pentameric Microsatellite in an Italian Population Sample

    (Received 17 June 1997; accepted 5 December 1997)

    CODEN: JFSOAD

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    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.


    Author Information:

    Tagliabracci, A
    Istituto di Medicina Legale, Università degli Studi di Ancona, Policlinico Torrette, Ancona,

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

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

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

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

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

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


    Stock #: JFS14316J

    ISSN: 0022-1198

    DOI: 10.1520/JFS14316J

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    Author
    Title Polymorphism and Sequence Variations of the HumCD4 Pentameric Microsatellite in an Italian Population Sample
    Symposium , 0000-00-00
    Committee E30