Method to detect repeat sequence motifs in nucleic acid

US11466325B2 · kind B2 · utility

Assignee

• Quest Diagnostics Investments LLC · US

Inventors

• Feras Hantash · San Juan Capistrano, US
• Weimin Sun · Thousand Oaks, US
• David Tsao · Palo Alto, US
• Dana Marie Root · Orange, US
• Charles M. Strom · San Clemente, US

Key dates

• Filing date: Mar 18, 2019
• Grant date: Oct 11, 2022
• Expiry date: Jun 2, 2039

Classification

• Technology area (CPC G): Physics
• CPC primary: G16B99/00
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Methods for determining the presence or absence of expansion of CGG repeat sequence in the FMR1 gene presence or absence of expansion of CCG repeat sequence in the FMR2 gene are provided. The methods are useful in identifying an individual with normal/intermediate, versus premutation or full mutation allele of FMR1 gene and FMR2 gene due to the expansion of CGG repeats and CCG repeats in the 5′-untranslated region respectively. The methods are also useful for screening newborns for fragile X syndrome or for screening women to determine heterozygosity status with full premutation of the CCG repeat tract. The methods are also useful in estimating the premutation and full mutation carrier frequency and estimating the prevalence of FXTAS AND FXPOI in a population. The methods are simple, rapid and require small amount of sample.