Molecular cytogenetics of α satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms
作者:
G.M. Greig,
S. Parikh,
J. George,
V.E. Powers,
H.F. Willard,
期刊:
Cytogenetic and Genome Research
(Karger Available online 1991)
卷期:
Volume 56,
issue 3-4
页码: 144-148
ISSN:1424-8581
年代: 1991
DOI:10.1159/000133071
出版商: S. Karger AG
数据来源: Karger
摘要:
A 340-bp EcoRl fragment of α 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, bio-tinylated 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 Taql. 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
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