IP Library Granted Patent US 8,609,338
Granted Patent B2
US 8,609,338 · App. 12/689,924 · Granted Dec 17, 2013

Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms

Inventors: Aoy Tomita Mitchell (Elm Grove, WI); Michael Mitchell (Elm Grove, WI)
Assignee: University of Louisville Research Foundation, Inc.
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Quick Facts
Patent No.
US 8,609,338
App. No.
12/689,924
Granted
Dec 17, 2013
Kind
B2
Abstract

The invention provides tandem single nucleotide polymorphisms and methods for their use, for example, in diagnosing Down Syndrome.

Claims (15)

1. A method for determining whether a fetus has an aneuploidy, said method comprising:

(a) providing a sample comprising maternal and fetal cell free DNA;

(b) designing primers directed to alleles of interest comprising tandem single nucleotide polymorphisms for specific chromosomal regions using computer software, wherein the alleles comprise tandem single nucleotide polymorphisms with single nucleotide polymorphisms that are at most 250 basepairs apart;

(c) enriching the sample for the alleles of interest using the designed primers to create isolated products;

(d) sequencing the isolated products;

(e) detecting isolated products from the chromosomal region of interests that comprise at least three different alleles, wherein each of the three different alleles of the chromosomal regions comprise different haplotypes of the tandem SNP;

(f) quantifying the detected isolated products to calculate a haplotype ratio for the alleles of interest at the chromosomal regions of interest;

(g) determining whether the fetus has an aneuploidy based on the calculated haplotype ratios.

2. The method of claim 1 , wherein the single nucleotide polymorphisms in the tandem single nucleotide polymorphism are at most 100 nucleotides apart.

3. The method of claim 2 , wherein the single nucleotide polymorphisms in the tandem single nucleotide polymorphism are at most 75 nucleotides apart.

4. The method of claim 3 , wherein the single nucleotide polymorphisms in the tandem single nucleotide polymorphism are at most 50 nucleotides apart.

5. The method of claim 1 , wherein the alleles of interest are enriched through amplification.

6. The method of claim 5 , wherein the primers are amplification primers used to enrich the alleles of interest.

7. The method of claim 1 , wherein the aneuploidy is a trisomy.

8. The method of claim 1 , wherein the aneuploidy is a monosomy.

Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Apr 5, 2010
From: MITCHELL, AOY TOMITA; MITCHELL, MICHAEL
To: UNIVERSITY OF LOUISVILLE RESEARCH FOUNDATION, INC.
Reel/Frame 024188/0531 →
Continuity (3)
Continuation In Part 11713069 · Feb 28, 2007
Provisional Application 60777865 · Feb 28, 2006
Related Publication 20110117548A1 · May 19, 2011