Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MOLECULAR CYTOGENETIC CHARACTERIZATION OF 17-ROB(13Q14Q) ROBERTSONIANTRANSLOCATIONS BY FISH, NARROWING THE REGION CONTAINING THE BREAKPOINTS
Autore:
HAN JY; CHOO KHA; SHAFFER LG;
Indirizzi:
BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,1 BAYLOR PLAZA HOUSTON TX 77030 BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET HOUSTON TX 77030 DONG A UNIV,COLL MED,DEPT CLIN PATHOL PUSAN SOUTH KOREA ROYAL CHILDRENS HOSP,MURDOCH INST RES BIRTH DEFECTS MELBOURNE VIC AUSTRALIA
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 55, anno: 1994,
pagine: 960 - 967
SICI:
0002-9297(1994)55:5<960:MCCO1R>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN ACROCENTRIC CHROMOSOMES; SATELLITE-III DNA; FLUORESCENCE INSITU HYBRIDIZATION; RIBOSOMAL-RNA GENES; RECIPROCAL TRANSLOCATIONS; SEQUENCES; SUBFAMILY; ORGANIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
J.Y. Han et al., "MOLECULAR CYTOGENETIC CHARACTERIZATION OF 17-ROB(13Q14Q) ROBERTSONIANTRANSLOCATIONS BY FISH, NARROWING THE REGION CONTAINING THE BREAKPOINTS", American journal of human genetics, 55(5), 1994, pp. 960-967

Abstract

We have characterized 17 rob(13q14q) Robertsonian translocations, using six molecular probes that hybridize to the repetitive sequences of the centromeric and short-arm regions of the five acrocentric chromosomes by FISH. The rearrangements include six de novo rearrangements andthe chromosomally normal parents, five maternally and three paternally inherited translocations, and three translocations of unknown origin. The D21Z1/D13Z1 and D14Z1/D22Z1 centromeric alpha-satellite DNA probes showed all rob(13q14q) chromosomes to be dicentric. The rDNA probesdid not show hybridization on any of the 17 cases studied. The pTRS-47 satellite III DNA probe specific for chromosomes 14 and 22 was retained around the breakpoints in all cases. However, the pTRS-63 satellite III DNA probe specific for chromosome 14 did not show any signals onthe translocation chromosomes examined. In 16 of 17 translocations studied, strong hybridization signals on the translocations were detected with the pTRI-6 satellite I DNA probe specific for chromosome 13. All parents of the six de novo rob(13q14q), including one whose pTRI-6 sequence was lost, showed strong positive hybridization signals on eachpair of chromosomes 14 and 13, with pTRS-47, pTRS-63, and pTR1-6. Therefore, the translocation breakpoints in the majority of rob(13q14q) are between the pTRS-47 and pTRS-63 sequences in the pll region of chromosome 14 and between the pTRI-6 and rDNA sequences within the pll region of chromosome 13.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/09/20 alle ore 17:21:20