Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1995-08

AUTHORS

Maarten P. Mulder, Martina Wilke, An Langeveld, Laurens G. Wilming, Anne Hagemeijer, Ellen van Drunen, Ellen C. Zwarthoff, Peter H. J. Riegman, Wout H. Deelen, Ans M. W. van den Ouweland, Dicky J. J. Halley, Carel Meijers

ABSTRACT

The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) and a minority of patients with non-syndromic conotruncal heart defects are hemizygous for a region of chromosome 22q11. The chromosomal region that is commonly deleted is larger than 2 Mb. It has not been possible to narrow the smallest region of overlap (SRO) of the deletions to less than ca 500 kb, which suggests that DGS/VCFS might be a contiguous gene syndrome. The saturation cloning of the SRO is being carried out, and one gene (TUPLE1) has been identified. By using a cosmid probe (M51) and fluorescence in situ hybridization, we show here that the anonymous DNA marker locus D22S183 is within the SRO, between TUPLE1 and D22S75 (probe N25). A second locus with weak homology to D22S183, recognized by cosmid M56, lies immediately outside the common SRO of the DGS and VCFS deletions, but inside the SRO of the DGS deletions. D22S183 sequences are strongly conserved in primates and weaker hybridizing signals are found in DNA of other mammalian species; no transcripts are however detected in polyA+ RNA from various adult human organs. Probe M51 allows fast reliable screening for 22q11 deletions using fluorescence in situ hybridization. A deletion was found in 11 out of 12 DGS patients and in 3 out of 7 VCFS patients. Two patients inherited the deletion from a parent with mild (atypical) symptoms. More... »

PAGES

133-141

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00207368

DOI

http://dx.doi.org/10.1007/bf00207368

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052066124

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7635459


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