Methods to detect a silent carrier of a null allele genotype
US10227650B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Nov 13, 2015 |
| Grant date | Mar 12, 2019 |
| Priority date | — |
| Expiry date | Feb 27, 2037 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldBiotechnology
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.