The Detection of Deafness Predisposing Genes Mutation in 375 Nonsyndromic Hearing Loss Patients from Gansu Province / 听力学及言语疾病杂志

Objective To investigate the molecular genetic causes and their characteristics of deafness from patients with nonsyndromic hearing loss in Gansu province.Methods Peripheral blood samples were obtained from a total of 375 patients with nonsyndromic hearing loss to extract genomic DNA.Three genes of GJB2, mitochondrial DNA 12SrRNA, and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among 375 patients, 23 patients were found to carry the homoplasmic mtDNA12SrRNA A1555G mutation, and 2 patients were detected to carry the homoplasmic mtDNA12SrRNA C1494T mutation.Forty-two cases(11.2%) were caused by GJB2 mutations, including 31cases(8.3%) of homozygous mutations, 11 patients(2.9%) of compound heterozygous mutations, and 25 cases(6.7%) of single homozygous mutations.c.235delC was the most prevalent GJB2 mutation with the allele frequency of 8.8%.Twenty-nine cases (7.7%) were caused by SLC26A4mutations, including 17cases(4.5%) of homozygous mutations, 12 patients(3.2%) of compound heterozygous mutations, and 16 cases(4.3%) of single homozygous mutations.c.919-2A>G and c.2168A>G were the most common SLC26A4 mutation, the allele frequencies were 5.2% and 2.0%, respectively.Conclusion A high incidence of mtDNA12SrRNAA1555G mutation is found in nonsyndromic hearing loss patients from Gansu province, while the incidence of GJB2 and SLC26A4 mutations is similar to the level of the overall Chinese deaf population.These findings demonstrate that a total of 25.6% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mitochondrialDNA12SrRNA mutations.As a result 36% patients and family member can acquire effective genetic counseling.

The Mutation Analysis of Common Deafness Genes Using SNPscan Technology in Nonsyndromic Hearing Loss Patients of Minority Ethnicities in Qinghai Province / 听力学及言语疾病杂志

Objective This study aims to investigate the mutation spectrum and frequency of GJB2 , mtDNA12SrRNA,and SLC26A4 genes in Hui people,Tibetan,Tu nationality,and Mongolian patients with non-syndromic hearing loss in Qinghai province.Methods Peripheral blood samples were obtained from a total of 211 minority patients with nonsyndromic hearing loss in Qinghai province to extract genomic DNA.Three genes of GJB2,mitochondrialDNA12SrRNA,and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among these 211 patients,5 Tu patients and 1 Mongolian patient were found to carry the ho-moplasmic mtDNAA1555G mutation.The GJB2 mutations detection rates were 11.38%,4.55%,5.88%,and 10%in Hui people,Tibetan,Tu nationality,and Mongolian patients,respectively.No statistically significant differences in the GJB2 mutations detection rates were found among all four ethnicities (P>0.05).c.235delC was the most prevalent mutation in both Tu patients and Mongolian patients.The allele frequency was 2.94% and 5%,respec-tively.While for Hui patients,c.299 300delAT was the most prevalent mutation with the allele frequency of 4.47%.The mutations detection rates of SLC26A4 were 6.5%,4.55%and 2.94%in Hui people,Tibetan,and Tu nationality patients,respectively.No statistically significant differences in the SLC26A4 mutations detection rates were found among all three ethnicities (P>0.05).c.235delC was the most prevalent mutation in Hui patients,the allele frequency was 2.44%.While for Tibetan patients,c.1226G>A was the most prevalent mutation with allele frequency of 2.27%.Conclusion A total of 10.9% of deaf patients have inherited hearing impairment caused by GJB2,SLC26A4,and mtDNAA1555G mutations.The mutation spectrum of GJB2 and SLC26A4 genes has the eth-nic specificity in nonsyndromic hearing loss patients of minority ethnicities in Qinghai province.

Expression and clinical significance of stromelysin-3 in laryngeal cancer / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the role of expression of stromelysin-3 in laryngeal carcinoma and the relationship between stromelysin-3 expression and the invasion and metastasis of laryngeal cancer.@*METHOD@#The expression of stromelysin-3 in 63 samples with laryngeal carcinoma and 63 adjacent normal tissue were detected by immunohistochemistry. The mRNA expression of stromelysin-3 were examined by reverse transcript-polymerase chain reaction (RT-PCR) in 22 frozen specimens of laryngeal cancer and 22 adjacent normal tissue.@*RESULT@#The immunochemistry showed the expression of stromelysin-3 in laryngeal cancer is much higher than that in adjacent normal tissue (P 0.05).@*CONCLUSION@#The expression of stromelysin-3 was closely associated with the invasion and metastases of laryngeal carcinoma, it may be served as a marker in estimating the invasion and metastases potency of laryngeal cancer.