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| Genetic characteristic analysis of a couple families with nonsyndromic hearing impairment |
| Jiangsu Family Planning Research Institute, Nanjing, Jiangsu Province, 210036 |
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Abstract Objective: To analyze the genetic characteristic of a couple with nonsyndromic hearing impairment from families, to screen the mutations of susceptibility deafness genes, and to identify genotypingof mutational genes. Methods: The data about diseases history and physical examinations of members from the families were collected. And genomic DNA was extracted from peripheral blood samples of the family members. The DNA target fragments were amplified by polymerase chain reaction (PCR) for detecting the gene mutations with DNA microarray. Results: The genotypes of the proband and his father were all wild genotypes, but proband’s wife and his mother’s family members all carried the mitochondrial DNA 12S rRNA 1555 A > G gene mutation. Although the two children of the proband couple were normal in hearing, the genotype detected results also showed that two children had the same mutations with mitochondrial DNA 12S rRNA 1555 A >g. Conclusion: The mutation with mitochondrial DNA 12S rRNA was probable one of the major factors resulting deafness in the family.
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