c.804delG mutation screening v1

• DOI: 10.17504/protocols.io.jhwcj7e
• Publication Date: 2017-08-21T15:42:57Z
• Authors: Abdelaziz Tlili; Abdullah Fahd Al ...; Mona Mahfood; Walaa Kamal Eddin...; Khalid Bajou
• Keywords: Agarose; Restriction digest; Restriction site; Restriction fragment

The novel c.804delG mutation, occurring in the seventh exon of ILDR1 gene, abolishes a FauI restriction site. pattern exon7 fragment (1003 bp) was used to screen 50 deaf individuals and 120 unrelated healthy UAE individuals. Digestion PCR products performed according manufacturer’s instructions (New England Biolabs, USA), followed by separation on 2% agarose gels.