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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.

作者信息

Budarf M L, Collins J, Gong W, Roe B, Wang Z, Bailey L C, Sellinger B, Michaud D, Driscoll D A, Emanuel B S

机构信息

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania, USA.

出版信息

Nat Genet. 1995 Jul;10(3):269-78. doi: 10.1038/ng0795-269.

DOI:10.1038/ng0795-269
PMID:7670464
Abstract

DiGeorge syndrome (DGS), a developmental defect, is characterized by cardiac defects and aplasia or hypoplasia of the thymus and parathyroid glands. DGS has been associated with visible chromosomal abnormalities and microdeletions of 22q11, but only one balanced translocation--ADU/VDU t(2;22)(q14;q11.21). We now report the cloning of this translocation, the identification of a gene disrupted by the rearrangement and the analysis of other transcripts in its vicinity. Transcripts were identified by direct screening of cDNA libraries, exon amplification, cDNA selection and genomic sequence analysis using GRAIL. Disruption of a gene in 22q11.2 by the breakpoint and haploinsufficiency of this locus in deleted DGS patients make it a strong candidate for the major features associated with this disorder.

摘要

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