Introduction
Clinical research is increasing tremendously in China. Almost 40% of the manuscripts sent to Acta Oto-Laryngology during 2017 came from China and approximately 30% of the papers accepted were Chinese.
One of the scientific areas rapidly improving is the genetic study of patients with hearing loss (HL). Hitherto, more than 20 loci have been described for non-syndromic autosomal recessive deafness. The first gene identified for this type of hearing loss in humans was the gap junction protein β-2 (GJB2) gene. More than 100 mutations of the GJB2 gene have already been identified. In China, studies have shown that some 12.2–33% of congenital sensorineural HL could be attributed to GJB2 gene mutation. The distribution of mutation varies in different Chinese regions and ethnic groups.
In the present paper the population of the ancient Silk Road region, where East and West met, were investigated concerning the prevalence of GJB2 mutations. In 2,398 patients, pathogenic mutations were identified in 243. The carrier frequencies of deafness-causing GJB2 mutations in prelingual HL were roughly 11–13% in the various ethnical groups (Han Chinese, Hui, and Uygur) but only 2.9% for Tibetans. Obviously there are ethnical differences regarding the carriage of the GJB2 mutations.
