摘要: This unit discusses an approach to identifying a genetic cause in individual with nonsyndromic hearing loss. Two protocols are presented, including full-gene sequencing assay identify mutations the GJB2 gene encoding connexin 26 protein. Mutations represent most common of congenital In addition, protocol detect presence 342-kb deletion that includes portion GJB6 is presented. The GJB6-D13S1830 deletion, homozygosity or combination single mutation, causes addition two Strategic Planning section presents discussion decision-making process can be used begin determining which gene(s) test for patient presenting task quite challenging, suspected involvement over 90 genes.
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