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Titolo:
A RARE 6Q11- CYTOGENETIC ANALYSIS AND IN-SITU HYBRIDIZATION( HETEROMORPHISM )
Autore:
LIN MS; ZHANG A; FUJIMOTO A; WILSON MG;
Indirizzi:
UNIV SO CALIF,LOS ANGELES CTY MED CTR,DEPT PEDIAT,DIV GENET,GEN LAB 1G24,1129 N STATE ST LOS ANGELES CA 90033 UNIV SO CALIF,SCH MED LOS ANGELES CA 00000
Titolo Testata:
Human heredity
fascicolo: 1, volume: 44, anno: 1994,
pagine: 31 - 36
SICI:
0001-5652(1994)44:1<31:AR6CAA>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN-CHROMOSOMES; ALPHOID SEQUENCES; DNA-REPLICATION; SATELLITE DNA; R-BANDS; REGIONS;
Keywords:
HETEROMORPHISM; LATERAL ASYMMETRY; ALPHA-SATELLITE DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
M.S. Lin et al., "A RARE 6Q11- CYTOGENETIC ANALYSIS AND IN-SITU HYBRIDIZATION( HETEROMORPHISM )", Human heredity, 44(1), 1994, pp. 31-36

Abstract

A rare variant of 6q11+ heteromorphism was found in a fetus and the mother during amniocentesis. The G- and Q-banding and DA/DAPI stain were negative. The C-banding was positive and the C-banded segment was 3-fold longer in the variant than in its homologue. Neither of the C-banded regions of chromosomes 6 decondensed when exposed to distamycin A or 5-azacytidine. A DNA replication study indicated that the C-banded variant was late replicating. The lateral asymmetry observed in the 6q11 variant after one replication cycle in 5-bromodeoxyuridine may result from an unequal interstrand distribution of thymidine in the repetitive DNA. Fluorescent in situ hybridization using a chromosome-6-specific alpha-satellite probe (D6Z1) demonstrated hybridization signals onthe centromere of chromosome 6. The 6q11 variant showed a signal which was 3-fold larger than its homologue. These results indicate that the 6q11 variant is an amplification of a chromosome-6-specific alpha repeat, and the size of the hybridization signal correlates with the size of the laterally asymmetric and C-banded region.

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Documento generato il 31/05/20 alle ore 13:28:34