BREAKPOINTS IN ROBERTSONIAN TRANSLOCATIONS ARE LOCALIZED TO SATELLITE-III DNA BY FLUORESCENCE INSITU HYBRIDIZATION

被引:70
作者
GRAVHOLT, CH [1 ]
FRIEDRICH, U [1 ]
CAPRANI, M [1 ]
JORGENSEN, AL [1 ]
机构
[1] PSYCHIAT HOSP AARHUS, CYTOGENET LAB, DK-8240 RISSKOV, DENMARK
关键词
D O I
10.1016/S0888-7543(05)80113-2
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
We characterized 21 t(13;14) and 3 t(14;21) Robert-sonian translocations for the presence of DNA derived from the short arms of the translocated acrocentric chromosomes and identified their centromeres. Nineteen of these 24 translocation carriers were unrelated. Using centromeric α-repeat DNA as chromosome-specific probe, we found by in situ hybridization that all 24 translocation chromosomes were dicentric. The chromatin between the two centromeres did not stain with silver, and no hybridization signal was detected with probes for rDNA or β-satellite DNA that flank the distal and proximal ends of the rDNA region on the short arm of the acrocentrics. By contrast, all 24 translocation chromosomes gave a distinct hybridization signal when satellite III DNA was used as probe. This result strongly suggests that the chromosomal rearrangements leading to Robertsonian translocations occur preferentially in satellite III DNA. We hypothesize that guanine-rich satellite III repeats may promote chromosomal recombination by formation of tetraplex structures. The findings localize satellite III DNA to the short arm of the acrocentric chromosomes distal to centromeric α-repeat DNA and proximal to β-satellite DNA. © 1992 Academic Press, Inc. All rights reserved.
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页码:924 / 930
页数:7
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