Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms.
A 340-bp EcoRI fragment of alpha satellite DNA from human chromosome 12 has been isolated and used in molecular cytogenetic and genetic studies. The clone, pSP12-1, detects tandemly repeated 1.4-kb repeat units at the centromeric region of chromosome 12. By fluorescence in situ hybridization, biotinylated pSP12-1 is highly specific for chromosome 12 and has been used to confirm an i(12p) in a case of Pallister-Killian syndrome, both in metaphase spreads and in interphase nuclei. A dominant DNA polymorphism for the centromeric D12Z3 locus is detected with the enzyme TaqI. In addition, a high frequency of D12Z3 array length polymorphisms can be detected using pulsed-field gel electrophoresis. The D12Z3 array has been measured by pulsed-field gel electrophoresis to span approximately 2,250-4,300 kb at the centromeric region of chromosome 12.
Department of Genetics, Stanford University, CA 94305-5120.
G M
GM
Greig
S
S
Parikh
J
J
George
V E
VE
Powers
H F
HF
Willard
D002503:Centromere / Q000648:ultrastructure; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D015342:DNA Probes; D004276:DNA, Satellite; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
D015342:DNA Probes; D004276:DNA, Satellite