Targeted Capture Sequencing of Deafness Genes
. After excluding common mutations, the targeted deafness gene
capture was conducted by BGI Inc.
The details of the deafness gene
capture, sequencing, and bioinformatics analysis methods have been described in detail previously .
Recurrent mutations in the deafness gene
GJB2 (connexin 26) in British Asian families.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene
They wondered if he, too, would be deaf, so they were tested and learned they both likely had a recessive "deafness gene
." There was a one in four chance with each pregnancy their child may be deaf.
Since the two members of a deaf couple generally owe their hearing loss to different genes, assortative mating creates a nightmare for geneticists trying to track a single deafness gene
through a family's history, a useful step in finding its chromosomal location.
The mouse Snell's waltzer deafness gene
encodes an unconventional myosin required for structural integrity of inner ear hair cells.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene
at loci DFNA36 and DFNB7/11.
Ethnic diversity of genetic variance has been reported in deafness gene
Yagi, "Identification of the protein product of the Coch gene (hereditary deafness gene
) as the major component of bovine inner ear protein," Biochimica et Biophysica Acta (BBA)--Molecular Basis of Disease, vol.
Hence, the identification of novel deafness gene
and the annotation thereafter are appreciated greatly in the research field and clinical community.
Mutation analysis of the common deafness genes
in patients with nonsyndromic hearing loss in linyi by SNPscan assay.