The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Mar. 12, 2019
Filed:
Nov. 13, 2015
Athena Diagnostics, Inc., Worcester, MA (US);
David A. Hill, Worcester, MA (US);
Matthew Evans, Shrewsbury, MA (US);
Corey D. Braastad, Southampton, MA (US);
Athena Diagnostics, Inc., Marlborough, MA (US);
Abstract
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein comprise quantitative nucleic acid amplification reactions and determination of a ratio of a target gene to a reference gene, and indicate that a subject is a silent carrier of a null allele corresponding to the target gene if the ratio is at or below a threshold level. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on other chromosome 5 homolog.