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PMID: 7635459 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 96 ·No. 2 ·1995-08-00 ·Pages 133-41

Mulder MP, Wilke M, Langeveld A, Wilming LG, Hagemeijer A, van Drunen E, Zwarthoff EC, Riegman PH, Deelen WH, van den Ouweland AM

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.

Related Genes
TUPLE1
MeSH Terms
Abnormalities, Multiple/genetics Blotting, Southern Cell Cycle Proteins Chromosome Mapping Chromosomes, Human, Pair 22/genetics Cosmids DiGeorge Syndrome/genetics Face/abnormalities Female Genetic Markers Genomic Library Heart Defects, Congenital/genetics Histone Chaperones Humans In Situ Hybridization, Fluorescence Karyotyping Male Pedigree Sequence Deletion Syndrome Transcription Factors/genetics
Chemicals
Cell Cycle Proteins Genetic Markers HIRA protein, human Histone Chaperones Transcription Factors
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Mulder M P
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Wilke M
Langeveld A
Wilming L G
Hagemeijer A
van Drunen E
Zwarthoff E C
Riegman P H
Deelen W H
van den Ouweland A M
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00207368
Published
1995-08-00
Pages
133-41
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00207368 View journal details
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