Objective To investigate the epidemiological characteristics of three common susceptive gene retared hearing loss in the patients with the congenital deafness in Liuzhou.Methods 161 patients with congenital hearing loss were diagnosed with audiologic evolutions,including newborns and outpatients.The blood samples of all patients were taken for the extraction of DNA which was amplified by PCR.The common mutationsl hot spots of the mitochondrial DNA 12SrRNA,GJB2 and SLC26A4 were examined by restricted enzyme and directed sequencing.Results 1 case(0.62%)was found to carry mitoehondrial DNA 12SrRNA A1555G and 4 patients(2.48%)carried heterozygotes or homozygotes pathologic mutations of GJB2.10 patients(6.21%)were heterozygous carriers with pathologic mutations,IVS7-2 A>G,in the SLC26A4 gene.The detection rate of GJB2,mitochondrial DNA A1555G and SLC26A4 mutations in 161 patients were 9.31%.Conclusion The patients with congenital hearing loss distributed different minority groups in liuzhou zone.The mutational frequencies of the three common gene related hearing loss in the patients of Liuzhou were noticeably lower than the data reported in other regions in China.The gene screening for deafness was very important for early diagnosis and treatment.

OBJECTIVE To investigate the incidence of the mitochondrial DNA 12SrRNA A1555G and connexin 26 gene (GJB2) in Chinese northwest population with nonsyndromic sensorineural hearing loss,and to explore the relationship between mitochondrial DNA A1555G and mutation of GJB2 gene. METHODS Blood samples were obtained from 221 patients with nonsyndromic sensorineural hearing loss in Northwest of China; Genomic DNA was extracted from the isolated leukocytes ; Screening the mitochondrial A1555G mutation by PCR-Alw26l digestion and sequence analysis, PCR and direct sequencing were used to analyze the coding region of GJB2 gene. RESULTS The homoplasmic A1555G mutation was found in 21 individuals of 221 patients,17 of these 21 patients had been treated with aminoglycosides. Eleven different variants of GJB2 were found in all patients ,the disease-causing mutations of GJB2 were 44 individuals in these patients(44/221), The mutation 235delC is found in 54.54 % of all disease-causing mutations ; Among 21 patients with the A1555G mutation, 11 cases were found polymorphic change in GJB2 gene ,only 1 case had V37I heterozygous mutations ,other 9 cases were not found any nucleotide changes of GJB2 gene. CONCLUSION The mtDNA 12SrRNA A1555G mutation has a high incidence in Chinese northwest population with non-syndromic sensorineural hearing loss.The 235delC mutation in the GJB2 gene is most frequent mutations responsible for non-syndromic hearing impairment in this region .It is unlikely that the GJB2 gene is a major modulatory factor for hearing loss due to the A1555G mutation in Chinese population.

Objective: To demonstrate the advantages of performing medial sural artery perforator flap compared with forearm flap. Methods : Between April 2010 and April 2011, 20 clinical cases were reconstructed using the medial sural artery perforator flap technique and compared with 20 forearm flap cases. Data on recent complications (in 2 weeks) and late complications (after 3 months) were collected. Results : Of the 20 medial sural artery perforator flaps, Only 1 case needed a skin graft, while 19 cases were primarily closed, and 1 case occurred muscle necrosis. Only linear scar was found in the postoperative donor area, and the effect on appearance and function was slight. Of the 20 forearm flaps, all cases needed a skin graft. For the recent complications, 3 cases of effusion under the skin graft, 2 cases of partial necrosis and 2 cases of wound dehiscence were observed. For the late complications of the forearm, 16 cases of an abnormal sensation were observed in the forearm group and 5 cases of an abnormal sensation were observed in the medial sural artery perforator flap group, and these differences were statistically significant (P <0.05). Significant differences were not observed in the other subjective contrasts(P >0.05). Scarring and pigmentation were much more serious in the forearm cases than the medial sural artery cases (P <0.05), and significant differences in the functional objective examination results were not observed between the two groups (P >0.05). Conclusion The medial sural artery perforator flap represents a good alternative for oral and maxillofacial reconstructions of small- and medium-sized defects, and it presents advantages over the forearm flap since it has less donor-site morbidity.