CLONING A BALANCED TRANSLOCATION ASSOCIATED WITH DIGEORGE-SYNDROME AND IDENTIFICATION OF A DISRUPTED CANDIDATE GENE

被引：128
作者：
BUDARF, ML
COLLINS, J
GONG, WL
ROE, B
WANG, ZL
BAILEY, LC
SELLINGER, B
MICHAUD, D
DRISCOLL, DA
EMANUEL, BS
机构：
[1] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104
[3] UNIV PENN,SCH MED,DEPT OBSTET & GYNECOL,PHILADELPHIA,PA 19104
[4] UNIV OKLAHOMA,DEPT CHEM,NORMAN,OK 73019
来源：
NATURE GENETICS | 1995年 / 10卷 / 03期
关键词：
D O I：
10.1038/ng0795-269
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：269 / 278
页数：10
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