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Molecular studies of DiGeorge syndrome
W J Fibison1, M Budarf, H McDermid
1Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.
American Journal of Human Genetics
|May 1, 1990
Summary
DiGeorge Syndrome (DGS) involves chromosome 22 deletions. Researchers found the D22S9 locus is deleted in some DGS patients, suggesting the critical region for DGS is near the BCRL2 locus.
Area of Science:
- Genetics
- Molecular Biology
- Human Diseases
Background:
- DiGeorge Syndrome (DGS) is a genetic disorder frequently linked to deletions on chromosome 22's long arm.
- Understanding the precise genetic loci involved is crucial for diagnosing and characterizing DGS.
Purpose of the Study:
- To investigate the deletion status of the D22S9 locus in DiGeorge Syndrome patients.
- To identify the critical region for DGS (DGCR) by analyzing chromosomal abnormalities.
Main Methods:
- DNA analysis using a probe for the D22S9 locus.
- Examination of cell lines from eight DGS patients and one carrier parent.
- Analysis of chromosomal translocations and interstitial deletions in 22q11.
Main Results:
- The D22S9 locus was deleted in four DGS patients with unbalanced translocations.
- D22S9 was not deleted in DGS probands with normal chromosomes or interstitial 22q11 deletions.
- Interstitial deletion DGS probands were heterozygous for D22S43, suggesting D22S9 and D22S43 flank the DGCR.
- One DGS patient with an interstitial deletion was monosomic for BCRL2 but had two copies of BCRL4 and BCR.
Conclusions:
- The D22S9 and D22S43 loci are located outside the critical region for DiGeorge Syndrome.
- The critical region for DGS (DGCR) is likely located near the BCRL2 locus on chromosome 22.