The Relativity Study Of The Mitochondrial Gene Mutation Of Non-syndromic Hearing Loss And Kidney Deficiency With Blood Stasis Type Of Uigur And Han

Objective: To investigate the mutation frequency of mtDNA 12S rRNA A1555G, and to contrast the difference between Uigur and Han patients with non-syndromic hearing loss in Xinjiang;to explore the relations between the mutation and kidney deficiency with blood stasis type. Methods: 92 deaf patients (48 of Uigur ,44 of Han) as the study group and 106 normal people (52 of Uigur,54 of Han) as the control group were collected in Xinjiang. The deafness were divided into kidney deficiency with blood stasis type and non-kidney deficiency with blood stasis type with Traditional Chinese Medicine differentiation. 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 12S rRNA A1555G mutation was detected using Alw26I restriction endonuclease digestion, followed by direct sequencing to identify the A1555G mutation. Results: Kidney deficiency with blood stasis type is 35.9% in all of patients. 8 patients (2 of Uigur, 6 of Han) are detected to carry mtDNA 12S rRNA A1555G mutation, including 6 cases with kidney deficiency with blood stasis type and 7 cases with aminoglycoside antibiotics. There is no mtDNA A1555G mutation in the control group. There is no statistically significant difference between the study group and the control group of Uigur, the study group of Uigur and Han (p>0.05). But the study group and the control group of Han have significant differences (p<0.05). kidney deficiency with blood stasis type is related to 12S rRNA A1555G mutation (p<0.05). Conclusions: Patients with kidney deficiency with blood stasis type may carry the mtDNA 12S rRNA A1555G. It is obvious that the mtDNA A1555G mutation has a high incidence in this region. The mtDNA 12S rRNA A1555G mutation is related to aminoglycoside antibiotics-induced deafness, which can cause genetic susceptibility to aminoglycoside antibiotics ototoxicity. It is helpful to reduce or delay the occurrence of deafness by genetic counseling and scientific intervention.