Methods for the detection of chromosomal aberrations

• US 6,214,558 B1
• Filed: 07/27/2000
• Issued: 04/10/2001
• Est. Priority Date: 08/14/1996
• Status: Expired due to Term

• Current Assignee: Esoterix Genetic Laboratories LLC (Laboratory Corporation Of America Holdings)
• Original Assignee: Exact Laboratories, Inc.
• Inventors: Shuber, Anthony P., Lapidus, Stanley N.
• Primary Examiner(s): Houtteman, Scott W.
• Application Number:
  US09/626,809
• Time in Patent Office: 257 Days
• Field of Search: 435/6, 536/23.3
• US Class Current: 435/6.11
• CPC Class Codes: C12Q 1/6809 Methods for determination or identification of nucleic acids involving differential detection
• CPC Class Codes: C12Q 1/6816 characterised by the detection means C12Q1/6804 takes precedence
• CPC Class Codes: C12Q 1/6827 for detection of mutation or polymorphism
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 2533/101 Primer extension
• CPC Class Codes: C12Q 2535/125 Allele specific primer extension
• CPC Class Codes: C12Q 2535/131 Allele specific probes
• CPC Class Codes: C12Q 2537/143 Multiplexing, i.e. use of multiple primers or probes in a single reaction, usually for simultaneously analyse of multiple analysis
• CPC Class Codes: C12Q 2537/155 Cyclic reactions
• CPC Class Codes: C12Q 2545/114 involving a quantitation step
• CPC Class Codes: C12Q 2563/107 fluorescence
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

Methods are provided for detecting fetal chromosomal aberrations by detecting statistically-significant differences between normal and aberrant chromosomes.

Claims

1. A method for detecting a fetal chromosomal abnormality, comprising the steps of:

a) introducing a first nucleic acid probe to a sample, wherein said first probe is capable of hybridizing to at least a portion of a first fetal chromosome in the sample;

b) introducing a second nucleic acid probe to the sample, wherein said second probe is capable of hybridizing to at least a portion of a second fetal chromosome;

c) washing said sample to remove unhybridized first and second probes;

d) determining a number X of said first probe that is hybridized to said first fetal chromosome or portion thereof;

e) determining a number Y of said second probe that is hybridized to said second fetal chromosome or portion thereof;

f) determining whether a difference exists between number X and number Y, the presence of a statistically-significant difference being indicative of a fetal chromosomal abnormality.