Fine Exon–Intron Structure of the Fanconi Anemia Group A (FAA) Gene and Characterization of Two Genomic Deletions |
| |
Authors: | Marta Centra Elena Memeo Maria d'Apolito Maria Savino Leonarda Ianzano Angelo Notarangelo Jingmei Liu Norman A Doggett Leopoldo Zelante Anna Savoia |
| |
Institution: | aServizio di Genetica Medica, IRCCS-Ospedale CSS, I-71013, San Giovanni Rotondo, Italy;bCenter for Human Genome Studies, Los Alamos National Laboratory, Los Alamos, New Mexico, 87545 |
| |
Abstract: | Fanconi anemia (FA) is a genetically heterogeneous disease with at least eight genes on the basis of complementation groups (FAAtoFAH). The analysis of theFAAgene in patients suggested the existence of deletions, none of which have thus far been characterized at the genomic level. A detailed restriction map of theFAAgene with the fine localization of its 43 exons is reported in this paper. We also describe the first two genomic deletions, one of 5.0 kb and another of at least 120 kb. The former was likely the result of a recombination between relatedAlusequences. Since these interspersed repeats could generate deletions and insertions by mispairing, rearrangements of this gene are a possibility in those FA families in whichFAAmutations have not been identified. |
| |
Keywords: | |
本文献已被 ScienceDirect 等数据库收录! |
|