PMID- 7868120
OWN - NLM
STAT- MEDLINE
DCOM- 19950324
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 95
IP  - 3
DP  - 1995 Mar
TI  - Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: 
      identification of new markers for molecular-cytogenetic application.
PG  - 287-92
AB  - Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast 
      artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) 
      amplification has been used to find new region-specific DNA probes for the 
      heterochromatic region of chromosome 21. Six overlapping YAC clones from a 
      pericentromeric contig map (region 21cen-21q11) were analyzed. Four YAC clones 
      were characterized as hybridizing to several chromosomal locations. They are, 
      therefore, either chimeric or shared by different chromosomes. Two of them 
      containing alphoid satellite DNA, are localized at the centromeric regions of 
      chromosomes 13 and 21 (clone 243A11), and on 13cen, 21cen and 1q3 (clone 781G5); 
      the two others are localized at both 21q11 and 13q2 (clone 759D3), and at 18p 
      (clone 770B3). Two YACs were strongly specific for chromosome 21q11 only (clones 
      124A7 and 881D2). These YACs were used effectively as probes for identifications 
      of chromosome 21 during metaphase and interphase analysis of 12 individuals, 
      including three families with Down syndrome offspring, and 6 aminocyte samples. 
      The location of YAC clones on 21q11 close to the centromeric region allows the 
      application of these clones as molecular probes for the analysis of marker 
      chromosomes with partial deletions of the long arm as well as for pre- and 
      postnatal diagnosis of trisomy 21 when alphoid or more distal region-specific DNA 
      probes are uninformative. Overlapping YAC clones covering human chromosome 21q 
      may be systematically used to detect a set of band-specific DNA probes for 
      molecular-cytogenetic application.
FAU - Yurov, Y B
AU  - Yurov YB
AD  - Institut de Biologie, INSERM U. 249-CNRS UPR 9008, Montpellier, France.
FAU - Laurent, A M
AU  - Laurent AM
FAU - Marcais, B
AU  - Marcais B
FAU - Vorsanova, S G
AU  - Vorsanova SG
FAU - Roizes, G
AU  - Roizes G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - 0 (Genetic Markers)
RN  - 0 (Heterochromatin)
SB  - IM
MH  - Base Sequence
MH  - Centromere
MH  - Chromosome Banding
MH  - Chromosome Mapping/methods
MH  - *Chromosomes, Artificial, Yeast
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - DNA Probes/*chemical synthesis
MH  - Down Syndrome/diagnosis/genetics
MH  - *Genetic Markers
MH  - Heterochromatin/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Sequence Data
MH  - Repetitive Sequences, Nucleic Acid
EDAT- 1995/03/01 00:00
MHDA- 1995/03/01 00:01
CRDT- 1995/03/01 00:00
PHST- 1995/03/01 00:00 [pubmed]
PHST- 1995/03/01 00:01 [medline]
PHST- 1995/03/01 00:00 [entrez]
AID - 10.1007/BF00225195 [doi]
PST - ppublish
SO  - Hum Genet. 1995 Mar;95(3):287-92. doi: 10.1007/BF00225195.