Details

Autor(en) / Beteiligte

• Shi, M
• Liu, F
• Xu, L
• Liu, M
• Tang, F Z
• Liang, J P
• Lu, Q T
• Zhai, S H
• Huang, J
• Chen, R C

Titel

Analysis of deafness-related gene mutations in 23 nonsyndromic hearing impairment families in Guangxi Zhuang Autonomous Region

Ist Teil von

• Lin chuang er bi yan hou ke za zhi, 2017-02, Vol.31 (4), p.277

Ort / Verlag

China

Erscheinungsjahr

2017

Quelle

MEDLINE

Beschreibungen/Notizen

• To investigate the genetic characteristics of the mutations responsible for nonsyndromic hearing loss in Guangxi Zhuang Autonomous Region, and analyze the deafness-related gene mutations in nonsyndromic hearing impairment families in this region. In 23 nonsyndromic hearing impairment families,66 patients or their families were enrolled as family history group and 167 patients or their families without family histiory as control group, respectively. Deafness gene mutations were determined with deafness-related gene mutations detection kits. The mutation rates among the deafness probands, the hearing impairment patients and their audibility relatives were analyzied. Whole length sequences of the deafness-related gene were detected if there was mutation by the kits, to explore Guangxi region-specific mutation-sites. Common deafness-related gene mutation rate in family history group(31.82%) was higher than that in control group(11.38%), including those that in GJB2 homozygous(21.21%), SLC26A4 homozygous (9.09%),