科研之友
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摘要
To analyze deaf-related genes in patients with fourteen Chinese families and provide a prenatal diagnosis system for such patients and their families. Peripheral blood of fourteen family members and the fetal amniotic fluids or fine hairs was collected. Four common deafness genes (GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3) were detected by using hereditary deafness gene chip. Here, 14 probands were found in the fourteen Chinese families. Among them, 9 cases was homozygous GJB2 235 del C mutations, 4 cases was homozygous SLC26A4 IVS7-2 A>G mutations and 1 case was heterozygous GJB2 235 del C and 299 del AT mutation. There were heterozygous GJB2 235 del C mutations on both sides of 9 couples, heterozygous SLC26A4 IVS7-2 A>G mutations of 4 couples and heterozygous GJB2 235 del C and 299 del AT of 1 couple. In these patients, 10 cases had GJB2 mutations and 4 cases had SLC26A4 gene mutations. In 14 cases of prenatal diagnosis, heterozygous GJB2 235 del C mutations was presented in 6 cases, homozygous GJB2 235 del C mutations in 2 cases, heterozygous SLC26A4 IVS7-2 A>G mutations in 2 cases, homozygous SLC26A4 IVS7-2 A>G mutation in 1 cases, heterozygous GJB2 299 del AT mutation in 1 cases and wild type in 2 cases. The overall detection rate of deaf-related gene mutations was 96.43% (54/56). The prenatal diagnosis of deaf-related gene mutations was 85.71% (12/14) and the rate of homozygous mutations was 21.43% (3/14). In conclusion, deaf-related gene mutations was common in families with hearing loss. A diagnostic system for deafness-related gene mutations may provide a basis for prenatal diagnosis and genetic counseling to families with hearing loss.
- 出版日期2017
- 单位福建医科大学
