Genetics of Hearing Loss—Nonsyndromic  

Oleh:

Kay W. Chang

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Otolaryngologic Clinics of North America (keterangan: ada di ClinicalKey) vol. 48 no. 06 (Dec. 2015), page 1063–1072.
Topik: Nonsyndromic Hearing Loss; DFNA; DFNB; GJB2; Next-Generation Sequencing; Massively Parallel Sequencing
Fulltext: O06 v48 n6 p1063 kelik2016.pdf (196.42KB)

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Perpustakaan FK Nomor Panggil: O06.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL. High-throughput sequencing techniques, also called next-generation sequencing (NGS) or massively parallel sequencing (MPS), may allow for routine definitive diagnosis of all possible genetic causes for hearing loss in the not-too-distant future.

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