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| Analysis of the variants of pathogenic deafness gene of population with deafness or high-risk in Lishui district |
| 1. Maternal and Child Health Center of Lishui District, Nanjing City, Jiangsu Province, 211200; 2. Jiangsu Institute of Planned Parenthood Research |
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Abstract To detect the susceptibility genes of deafness of population with deafness or high-risk by the technology of deafness gene chip, to explore the genetic mutation characteristics of gene of hereditary deafness in Lishui district of Nanjing city, and to provide reference for the prevention and consultation of hereditary deafness. Methods: A total of 200 cases with deafness or deaf high-risk in Lishui district were collected and were divided into 102 cases in the deaf group and 98 cases in the high-risk group. The 15 locus pathogenic variants of four genes of all cases were screened and analyzed. Results: Among the 200 samples of these cases, there were 66 cases (33.0%, 66/200) with known pathogenic deafness genes, which included 47 cases (46.1%, 47/102) from the deafness group, and 19 cases (19.4%, 19/98) from the high risk group. Among the positive results of 66 cases, the detection rate of GJB2 gene mutation SLC26A4 gene mutation, mitochondrial 12SrRNA gene mutation, and GJB3 gene mutation were 11.5%, 9.5%, 12.5%, and 0%, respectively. Conclusion: The mutations of deafness gene of people in Lishui district have obvious regional characteristics. The highest rate of hot spot mutations is from mitochondrial 12SrRNA gene and the most of them is 1555 A＞G gene mutation.
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