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Titolo:
EVIDENCE FOR STRUCTURAL HETEROGENEITY FROM MOLECULAR CYTOGENETIC ANALYSIS OF DICENTRIC ROBERTSONIAN TRANSLOCATIONS
Autore:
SULLIVAN BA; JENKINS LS; KARSON EM; LEANACOX J; SCHWARTZ S;
Indirizzi:
CASE WESTERN RESERVE UNIV,DEPT GENET,10900 EUCLID AVE CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,DEPT GENET CLEVELAND OH 44106 CASE WESTERN RESERVE UNIV,CTR HUMAN GENET CLEVELAND OH 44106 UNIV HOSP CLEVELAND CLEVELAND OH 44106 UNIV MARYLAND,DIV HUMAN GENET BALTIMORE MD 21201 KAISER PERMANENTE MED GRP SAN JOSE CA 00000 COLUMBIA WOMENS HOSP MED CTR WASHINGTON DC 00000
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 59, anno: 1996,
pagine: 167 - 175
SICI:
0002-9297(1996)59:1<167:EFSHFM>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN ACROCENTRIC CHROMOSOMES; SATELLITE-III DNA; FLUORESCENCE INSITU HYBRIDIZATION; IDENTIFICATION; SUBFAMILY; SEQUENCES; REGIONS; BREAKPOINTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
B.A. Sullivan et al., "EVIDENCE FOR STRUCTURAL HETEROGENEITY FROM MOLECULAR CYTOGENETIC ANALYSIS OF DICENTRIC ROBERTSONIAN TRANSLOCATIONS", American journal of human genetics, 59(1), 1996, pp. 167-175

Abstract

Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subfamilies, pTRS-47 and pTRS-63, have been indicated for most of the dicentric 14q21q and 13q14q translocations that have been studied. We have analyzed the structure of 36 dicentric translocations, using several repetitive DNA probes that localize to the acrocentric short arm. The majority of the translocations retained satellite III DNA, while others proved variable in structure. Of 10 14q21q translocations analyzed, satellite III DNA was undetected in 1; 6 retained one satellite III DNA subfamily, pTRS-47; and 3 appeared to contain two 14-specific satellite III DNA subfamilies, pTRS-47 and pTRS-63. In 10/11 translocations involving chromosome 15, the presence of satellite III DNA was observed. Our results show that various regions of the acrocentric short arm, and, particularly, satellite III DNA sequences, are involved in the formation of Robertsonian translocations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 10:46:08