Analysis on GJB2 gene mutations with nonsyndromic hearing impairment in Kazak patients of Xinjiang / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang.@*METHOD@#One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.@*RESULT@#Eight kinds of mutation were found in the encoding region of hearing impairment group:12 cases of 35 delG homozygous, 5 cases of 79G>A homozygous, 8 cases of 79G>A heterozygous, 1 case of 79G>A heterozygous and 608T>C heterozygous, 5 cases of 79G>A heterozygous and 341A>G heterozygous, 4 cases of 235 delC heterozygous, 2 cases of 341A>G heterozygous, 1 case of 439T>G heterozygous, 1 cases of 457G> A heterozygous, 2 cases of 521G>A homozygous. Four kinds of mutations found in the normal group were confirmed as common polymorphic mutation.@*CONCLUSION@#The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics. There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang. In this study the 35 delG mutation is a common mutation of Kazak patients.

Analysis of mtDNA 12SrRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in Xinjiang / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the incidence of Uigur patients with nonsyndromic hereditary hearing loss in Xinjiang, and to provide the basis for preventing deafness caused by aminoglycoside antibiotics.@*METHOD@#The medical history of 51 Uigur deaf patients as the study group was collected in Xinjiang. Fifty-three Uigur normal people were selected as the control group in Xinjiang. Blood samples were obtained from them with informed consents. Genomic DNA was extracted from isolated leukocytes. The mitochondrial DNA fragments were amplified by polymerase chain reaction. mtDNA 12SrRNA A1555G mutation was detected using A1w26I restriction endonuclease digestion, followed by direct sequencing to identify the A1555G mutation.@*RESULT@#The mtDNA A1555G mutation was detected in 2 Uigur patients, and both of them had used aminoglycoside antibiotics.@*CONCLUSION@#There is no statistically significant difference between patients and normal people in Xinjiang. The mtDNA A1555G mutation is related to aminoglycoside antibiotics-induced deafness, which can cause genetic stisceptibility to aminoglycoside antibiotics ototoxicity. The incidence of mtDNA A1555G is lower than the average level of the overall Chinese deaf population.