AcroM fluorescent in situ hybridization analyses of marker chromosomes.
The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for their rapid and detailed analyses. A new strategy is presented, which allows the elucidation of the composition of SMCs in one or two hybridizations. One hybridization, termed AcroM-FISH, involves a newly generated probe mix, which consists of painting probes for all acrocentric chromosomes, centromere probes for chromosomes 13/21, 14/22, 15, and a probe specific for rDNA, each labeled with a specific combination of fluorochromes. This probe mix is sufficient to characterize approximately 80% of all SMCs. For the other 20% of SMCs, chromosomes can be analyzed in a second hybridization by multicolor karyotyping, for example, multiplex FISH (M-FISH), to check for the presence of euchromatin of other chromosomes. The potential of AcroM-FISH was tested in various applications.
Langer
S
S
Institut für Anthropologie und Humangenetik, LMU Munich, Germany.
Fauth
C
C
Rocchi
M
M
Murken
J
J
Speicher
M R
MR
D000328:Adult; D002503:Centromere; D002675:Child, Preschool; D002843:Chromatin / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D020223:Chromosome Painting / Q000379:methods*; D002877:Chromosomes, Human / Q000235:genetics*; D004275:DNA, Ribosomal / Q000737:chemistry; D005456:Fluorescent Dyes; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D008297:Male; D015341:Nucleic Acid Probes; D012680:Sensitivity and Specificity
D002843:Chromatin; D004275:DNA, Ribosomal; D005456:Fluorescent Dyes; D005819:Genetic Markers; D015341:Nucleic Acid Probes