Reliability Of Békésy Threshold Tracing In Identification Of Carriers Of Genes For An X-Linked Disease With Deafness

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Abstract
Seven identified carriers and 20 potential carriers of Norrie's disease have been examined by pure tone octave audiometry and Békésy audiometry. The investigation supports earlier results of Békésy threshold tracings performed in heterozygote carriers of genes for recessive hearing impairment. The sensitivity of the method is poor. The specificity of the Békésy threshold tracing is high, meaning that an absent dip cannot exclude the possibility of a subject being a carrier, whereas a present dip can be regarded as an indication of a carrier. When comparing conventional octave audiometry and Békésy threshold tracing, the latter method is found to be the more subtle in finding carriers of genes for recessive deafness. Therefore, Békésy threshold tracing may be of help in the genetic counselling of potential carriers of genes for recessive deafness.

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