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| Analysis of mutations of mitochondrial DNA 12S rRNA A1555G and C1494T among the population in Jiangsu region |
| LI Menglan LIN Ning SHI Hui WANG Lijuan JIANG Zhixin HUANG Lili WU Yulin |
| Jiangsu Institute of Planned Parenthood Research Laboratory Screening Center, Jiangsu Reproductive Health Examination Center, Jiangsu Province, Nanjing 210036, China |
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Abstract Objective To investigate the mutations of mitochondrial DNA 12S rRNA A1555G and C1494T among the population in Jiangsu region. Methods A total of 1843 cases were enrolled from the deafness genetic screening in Jiangsu Province, and they were divided into three groups according to their deafness status and family history, including 904 cases with non-syndromic deafness as the deafness group, 299 cases with family members of deafness as the deafness high risk group, 640 cases with normal hearing and without family members of deafness as the normal control group. And deafness patients were divided into three groups according to the region: South Jiangsu, Middle Jiangsu and North Jiangsu, including 254 cases in Zhenjiang were from the South Jiangsu group, 287 cases in Taixing, Rugao and Gaoyou were from the Middle Jiangsu group, and 363 cases in Lianshui and Shuyang were from the north Jiangsu group. Relevant date of all these subjects were collected, and genomic DNA were extracted from the whole blood and mitochondrial DNA 12S rRNA A1555G and C1494T were genotyped. Results Comparison of the detection rate of A1555G and C1494T mutation in deafness group, deafness high risk group and normal control group showed statistically significant difference (P ＜ 0.01). The mutation rate of A1555G and C1494T in deafness group and deafness high risk group was higher than that in normal control group, and the difference was highly statistically significant (P ＜ 0.01), There was no significant difference between the deafness high risk group and the deafness group (P ＞ 0.05). The mutation detection rates of A1555G and C1494T in the three groups of South, Middle and North Jiangsu groups were compared, and the differences were statistically significant (P ＜ 0.05), the mutation rate of A1555G and C1494T in the North Jiangsu group was higher than that in the Middle Jiangsu group and the South Jiangsu group, and the differences were statistically significant (P ＜ 0.05), but there was no statistically significant difference between the Middle Jiangsu group and the South Jiangsu group (P ＞ 0.05). Conclusion The mutation rate of mitochondrial DNA 12S rRNA A1555G and C1494T in deafness and deafness high risk population in Jiangsu region is high, and there are regional differences. Screening for mitochondrial DNA 12S rRNA A1555G and C1494T mutations in Jiangsu population, and providing reasonable medication guidance and genetic counseling for mutant gene carriers and their maternal family members, have important clinical significance in reducing the occurrence of drug-related deafness defects.
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