Method of detecting aneuploidy by amplified short-tandem repeats

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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536 243, 536 2431, 536 2433, C12Q 168

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059940573

ABSTRACT:
A method is provided for determining aneuploidy of selected chromosomes. An important feature of the invention is the quantitative amplification of STR markers with repeat units of at least 3 nucleotides. The amplified STR DNA is separated by size and the respective quantities of the amplified components are determined and related to chromosome copy number. The highly polymorphic nature of the STR markers permits a more sensitive and reliable quantitative analysis of the amplified DNA.

REFERENCES:
Bernstein et al., J. Clin. Investigation, 83(4):1390-99, Apr. 1989.
Mutter et al. Nucleic Acids Research, 19 (15): 4203-4207 (1991) Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.
Sharma et al., Human Molecular Genetics 1(1):67.
Stratagene 1988 Catalog, p. 39.
McBride et al., in "Polymerase Chain Reaction," ed by Erlich et al. Cold Spring Harbor Laboratory Press p. 211-216, 1989.
Levanon et al., EMBO 4(1):77-84, 1985.

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