MR. STEVE SOMMER, MD
Medical Practice at Duarte Rd, Duarte, CA

7449561, Nov 11, 2008

Feb 24, 2003

10/371222

Steve S. Sommer - Duarte CA, US
Jinong Feng - Arcadia CA, US
Carolyn Buzin - Arcadia CA, US
Jin Yan - Duarte CA, US
Jeffrey Towbin - Houston TX, US

City of Hope - Duarte CA
Baylor College of Medicine - Houston TX

C07H 21/02, C07H 21/04, C12Q 1/68

536 231, 435 6, 536 2433

The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and/or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations/alterations, which are useful for diagnosing the predisposition to sporadic DCM.

2009008, Apr 2, 2009

Jul 16, 2007

11/778307

Qiang LIU - Arcadia CA, US
Steve S. Sommer - Duarte CA, US

City of Hope - Duarte CA

C12Q 1/68

435 6

Methods are presented for determining the presence of an inversion in the factor VIII gene which cause hemophilia A. The methods encompass long distance, multiplex PCR (including overlapping PCR). The use of deaza-dGTP, high levels of DNA polymerases and high levels of DMSO aid in successfully performing the PCR. The use of a novel technique called subcycling PCR can also be applied as part of the methods. The technique allows for the determination of whether a person is homozygous or hemizygous for the inversion and has hemophilia A or whether a person is heterozygous for the inversion and is a carrier. The technique of long distance, multiplex PCR including use of deaza-dGTP, high levels of DNA polymerases and high levels of DMSO are applicable to the determination of the presence of other gross chromosomal aberrations such as deletions/inversions, translocations and inversions. The use of subcycling PCR can achieve efficient and more even amplification than normal two or three temperature PCR and is applicable to long distance, multiplex PCR.

7504221, Mar 17, 2009

Jul 2, 2007

11/772622

Qiang Liu - Arcadia CA, US
Steve S. Sommer - Duarte CA, US

City of Hope - Duarte CA

C12Q 1/68, C12P 19/34

435 6, 435 911, 435 912

A novel method of pyrophosphorolysis activated polymerization (PAP) has been developed. In PAP, pyrophosphorolysis and polymerization by DNA polymerase are coupled serially for each amplification by using an activatable oligonucleotide P* that has a non-extendible 3′-deoxynucleotide at its 3′ terminus. PAP can be applied for exponential amplification or for linear amplification. PAP can be applied to amplification of a rare allele in admixture with one or more wild-type alleles by using an activatable oligonucleotide P* that is an exact match at its 3′ end for the rare allele but has a mismatch at or near its 3′ terminus for the wild-type allele. PAP is inhibited by a mismatch in the 3′ specific sequence as far as 16 nucleotides away from the 3′ terminus. PAP can greatly increase the specificity of detection of an extremely rare mutant allele in the presence of the wild-type allele. Specificity results from both pyrophosphorolysis and polymerization since significant nonspecific amplification requires the combination of mismatch pyrophosphorolysis and misincorporation by the DNA polymerase, an extremely rare event.

6287441, Sep 11, 2001

Oct 6, 1999

9/413533

Qiang Liu - Upland CA
Steve S. Sommer - Duarte CA

City of Hope - Duarte CA

G01N 2726

204461

Experiments were performed to test for a set of SSCP conditions that would detect virtually all mutations in a nucleic acid being analyzed. The effects of buffer, gel matrix, temperature, and additive were all tested. Dideoxy fingerprinting was used as a tool to generate a large statistical sample (about 1,500) of mutation-containing single-stranded segments in order to evaluate adequately the sensitivity under a given condition. Mutations in exons H and B/C of the factor IX gene were utilized. SSCP sensitivity, as conveniently measured by the average SSCP efficiency, varied with conditions. Correlation coefficients (R) identified pairs of conditions that were either close to independent or complementary. Five conditions were selected with sufficient redundancy to detect all the mutations in the set tested. The sensitivity of multi-conditional SSCP (SSCP. sub.

7914995, Mar 29, 2011

Mar 11, 2009

12/402206

Qiang Liu - Arcadia CA, US
Steve S. Sommer - Duarte CA, US

City Of Hope - Duarte CA

C12Q 1/68, C12P 19/34

435 6, 435 912

A novel method of pyrophosphorolysis activated polymerization (PAP) has been developed. In PAP, pyrophosphorolysis and polymerization by DNA polymerase are coupled serially for each amplification by using an activatable oligonucleotide P* that has a non-extendible 3′-deoxynucleotide at its 3′ terminus. PAP can be applied for exponential amplification or for linear amplification. PAP can be applied to amplification of a rare allele in admixture with one or more wild-type alleles by using an activatable oligonucleotide P* that is an exact match at its 3′ end for the rare allele but has a mismatch at or near its 3′ terminus for the wild-type allele. PAP is inhibited by a mismatch in the 3′ specific sequence as far as 16 nucleotides away from the 3′ terminus. PAP can greatly increase the specificity of detection of an extremely rare mutant allele in the presence of the wild-type allele. Specificity results from both pyrophosphorolysis and polymerization since significant nonspecific amplification requires the combination of mismatch pyrophosphorolysis and misincorporation by the DNA polymerase, an extremely rare event.

7033763, Apr 25, 2006

May 9, 2003

10/434369

Qiang Liu - Arcadia CA, US
Steve S. Sommer - Duarte CA, US
Arthur D. Riggs - La Verne CA, US

City of Hope - Duarte CA

C12Q 1/68, C12P 19/34

435 6, 435 911, 435 912

A novel method of pyrophosphorolysis activated polymerization (PAP) has been developed. In PAP, pyrophosphorolysis and polymerization by DNA polymerase are coupled serially for each amplification by using an activatable oligonucleotide P* that has a non-extendible 3′-deoxynucleotide at its 3′ terminus. PAP can be applied for exponential amplification or for linear amplification. PAP can be applied to amplification of a rare allele in admixture with one or more wild-type alleles by using an activatable oligonucleotide P* that is an exact match at its 3′ end for the rare allele but has a mismatch at or rear its 3′ terminus for the wild-type allele. PAP is inhibited by a mismatch in the 3′ specific sequence as far as 16 nucleotides away from the 3′ terminus. PAP can greatly increase the specificity of detection of an extremely rare mutant allele in the presence of the wild-type allele. Specificity results from both pyrophosphorolysis and polymerization since significant nonspecific amplification requires the combination of mismatch pyrophosphorolysis and misincorporation by the DNA polymerase, an extremely rare event.

2003022, Dec 11, 2003

Mar 13, 2003

10/387324

Qiang Liu - Upland CA, US
Piotr Swiderski - San Dimas CA, US
Steve Sommer - Duarte CA, US

C12Q001/68, C12P019/34

435/006000, 435/091200

Truncated amplification (TA) provides high fidelity, template driven amplification of target nucleic acid molecules in which truncating oligonucleotides are used as primers to produce truncated terminal products that are in most, if not all, cases no more than three rounds of replication from the original template. In certain embodiments, TA can amplify target nucleic acids quadratically or geometrically, depending on the number of truncating oligonucleotides used for amplification.

7871820, Jan 18, 2011

Sep 21, 2007

11/859631

Steve S. Sommer - Duarte CA, US
Jinong Feng - Arcadia CA, US
Jin Yan - Duarte CA, US

City of Hope - Duarte CA

C12P 19/34

436 6, 435 912

The three β-neurexins have similar roles in synaptogenesis and interact with the neuroligins. Mutations located within the gene encoding neurexin 1 have been identified as molecular markers associated with autism and autism-related disorders. The estimated attributable risk is 2%. The invention provides methods of diagnosing or predicting susceptibility to developing autism in an individual by determining the presence or absence of one or more genetic variant of a neurexin 1 gene in an individual.

6207425, Mar 27, 2001

Sep 10, 1998

9/150900

Qiang Liu - Arcadia CA
Steve S. Sommer - Duarte CA

City of Hope - Duarte CA

C12P19/34

435 912

Bi-directional polymerase chain reaction (PCR) amplification of specific alleles (Bi-PASA). Two outer primers (P and Q) and two inner primers (A and B) are used. A and B are each specific for different alleles. In heterozygotes, three segments are amplified: a segment of size AQ resulting from one allele, another segment of size PB resulting from the second allele, and a combined segment of size PQ. In homozygotes, segment PQ and either segments AQ or PB amplify.