Abstract | OBJECTIVE: METHOD: To investigate this relationship, we obtained DNA samples from 15 cases with autosomal recessive and autosomal dominant forms of non-syndromic deafness. In addition, DNA samples were obtained from 252 unrelated subjects with sporadic hearing loss; parents of these subjects were symptom free. We analyzed the coding region for the connexin 26 gene for mutation using PCR-SSCP and sequence analysis and PCR-mediated site-directed mutagensis. RESULT: We detected 46 mutations with SSCP. The PCR products that of 5 cases mutations had similar abnormalities in their electrophoresis bands were sequenced. Results from 2 cases of families with hereditary hearing loss and 3 cases of sporadic hearing loss had a G-to-A transversion at nucleotide 79. In addition, 2 cases sporadic hearing loss with 251 delT and 233 delC were found, 35 delG was not detected in 46 cases abnormal PCR products using PSDM assay. CONCLUSION: High mutation rates were found in China deafness population of connexin 26 gene, but the mutation loci is different from those previously reported. Finding hot spot of connexin 26 gene mutation in China population is important for deafness etiologic diagnosis and affect genetic counseling.
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Authors | P Wang, Y Wang, X Liu, B Du |
Journal | Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology
(Lin Chuang Er Bi Yan Hou Ke Za Zhi)
Vol. 15
Issue 10
Pg. 439-41
(Oct 2001)
China |
PMID | 12541685
(Publication Type: Journal Article)
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Chemical References |
- Connexins
- GJB2 protein, human
- Connexin 26
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Topics |
- Adolescent
- Child
- Connexin 26
- Connexins
(genetics)
- Female
- Hearing Loss, Sensorineural
(genetics)
- Humans
- Male
- Mutation
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