Low fluorescence alpha satellite region yields negative result

Mizunoe, Tomoya; Young, S. R.

doi:10.1002/pd.1970120615

Cited by 15 publications

(5 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, clustering of acrocentric chromosomes around the nucleolus organizer region may obscure the resolution of centromeric probes in interphase nuclei (Klinger et aZ., 1992). In addition, variations in alphoid DNA sequences have led to false results with this probe (Mizunoe and Young, 1992;Verma and Luke, 1992). In contrast to Lebo et al (1992), we conclude that the use of ths probe is unreliable for analysing chromosome 21 or 13 copy number in uncultured amniocytes.…”

Section: Discussionmentioning

confidence: 78%

Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization

et al. 1994

View full text Add to dashboard Cite

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.

show abstract

Section: Discussionmentioning

confidence: 78%

Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization

et al. 1994

View full text Add to dashboard Cite

show abstract

“…However, a limitation of this probe-type is that the copy number of the repeat sequence detected by the probe is highly variable and may be too small to produce any signal which may lead to false negative or false positive FISH results (Mizunoe and Young, 1992;Verma and Luke, 1992;Cacheux et al, 1994;Verlinsky et al, 1995;Catala Á et al, 1996). When using this probe-type for follow-up studies in uncultured AF cells, false results can often be prevented by ®rst testing the probe on cells with the chromosome aberration that needs to be veri®ed.…”

Section: Discussionmentioning

confidence: 99%

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

et al. 2001

View full text Add to dashboard Cite

“…We believe the discrepancy is likely to be due to the lower sensitivity of the other investigator's methods, which were generally based on interphase and metaphase FISH using conventional fluorescence microscope detection. Furthermore, unlike our study, which has compared all of the human chromosomes, previous investigators have analyzed only one or two chromosomes (Wevrick et al 1990;Mizunoe and Young 1992;Verma and Luke 1992;Weier and Gray 1992;Bossuyt et al 1995;Abruzzo et al 1996;Verma et al 1997;Liehr et al 1998;Verma et al 1998) and therefore do not provide a relative measure of low-alphoid centromeres among the different chromosomes.…”

Section: Wwwgenomeorgmentioning

confidence: 93%

Extreme Reduction of Chromosome-Specific α-Satellite Array Is Unusually Common in Human Chromosome 21

Liao²,

Rocchi³

et al. 1999

Genome Res.

View full text Add to dashboard Cite

Human centromeres contain large arrays of ␣-satellite DNA that are thought to provide centromere function. The arrays show size and sequence variation, but the extent to which extremely low levels of this DNA can occur on normal centromeres is unclear. Using a set of chromosome-specific ␣-satellite probes for each of the human chromosomes, we performed interphase fluorescence in situ hybridization (FISH) in a population-screening study. Our results demonstrate that extreme reduction of chromosome-specific ␣ satellite is unusually common in chromosome 21 (screened with the ␣RI probe), with a prevalence of 3.70%, compared to Յ0.12% for each of chromosomes 13 and 17, and 0% for the other chromosomes. No analphoid centromere was identified in >17,000 morphologically normal chromosomes studied. All of the low-alphoid centromeres are fully functional as indicated by their mitotic stability and binding to centromere proteins CENP-B, CENP-C, and CENP-E. Sensitive metaphase FISH analysis of the low-alphoid chromosome 21 centromeres established the presence of residual ␣RI as well as other non-␣RI ␣-satellite DNA suggesting that centromere function may be provided by (1) the residual ␣RI DNA, (2) other non-␣RI ␣-satellite sequences, (3) a combination of 1 and 2, or (4) an activated neocentromere DNA. The low-alphoid centromeres, in particular those of chromosome 21, should provide unique opportunities for the study of the evolution and the minimal DNA requirement of the human centromere.

show abstract

Low fluorescence alpha satellite region yields negative result

Cited by 15 publications

References 4 publications

Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization

Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescencein situhybridization

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

Extreme Reduction of Chromosome-Specific α-Satellite Array Is Unusually Common in Human Chromosome 21

Contact Info

Product

Resources

About