|
|
|
| The application of genetic deafness gene chip in screening of neonatal deafness gene |
| Developmental Biology Laboratory, Baiyi Children’s Hospital Affiliated to PLA Army Beijing General Hospital, Beijing |
|
|
|
|
Abstract To screen common deneness gene of newborn by genetic deafness gene chip, to use the result of genetic screening to assist clinical diagnosis，and to provide genetic counseling. Methods：The heel blood of newborns were collected and made for dried blood spots, and then lymphocyte DNA was extracted from the dried blood spots. Nine mutations of four common deafness genes of Chinese were tested by Nine Deafness Gene Mutations Detection Kit, which included GJB2 (35delG/ 176del16/ 235delC/ 299delAT), GJB3(C538T), SLC26A4(IVS72A>G/ A2168G) and mitochondrion 12SrRNA(A1555G/ 1494T). Results：Mutations were found in 73 cases, and the rate of mutation was 3.5%. Among the 73 cases, 28 cases were mutations of GJB2 gene, 5 cases were mutations of 12SrRNA gene, 34 cases were mutations of SLC26A4 gene, and 5 cases were mutations of GJB3 gene,1 case had three heterozygous mutation (235delC heterozygous, 299delAT heterozygous and IVS72A>G heterozygous).Conclusion：Normal persons maybe carry genetic deafness because of gene mutation，so deafness gene detection of newborns will help to find deafness mutation early，and it is also help for preventing and treating deafness.
|
|
|
|
|
|
|
|
|
