Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Wagner, K; Kroisel, PM; Rosenkranz, W.
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.
Genomics. 1990; 8(3):487-491
Doi: 10.1016/0888-7543(90)90035-S
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- Führende Autor*innen der Med Uni Graz
- Wagner Klaus
- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
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- Abstract:
- Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder that has been mapped to 7p13. We have investigated two patients with GCPS and a cytogenetically visible microdeletion of the short arm of chromosome 7 with gene probes that have been assigned close to the proposed Greig locus. Deletion breakpoints were determined from high-resolution G- and R-banded chromosomes. In patient BC with a de novo deletion (7p12.3-7p14.2) we have found a loss of the genomic region containing the T-cell receptor gamma (TCRG) gene cluster, whereas the other patient IR with a deletion (7p11.2-7p13) due to a de novo translocation was apparently normal for this region. Gene dosage analysis revealed a loss of the phosphoglycerate mutase muscular form (PGAM2) gene locus in both patients. Hox 1.4 and interferon-beta 2 (IFNB2) showed a normal gene dosage. Our investigations revealed the following ordering and assignments of the studied genes: PGAM2 and GCPS in 7p12.3-13; TCRG in the distal part of 7p13-7p14.2; Hox 1.4 and IFNB2 distal to 7p14.2. Our results suggest a location of the TCRG gene more proximal than that reported previously. Furthermore, we were able to exclude the Hox 1.4 gene from involvement in the pathogenesis of GCPS.
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