dna sequencing sequencher heterozygous mutations

Gradually implemented in large and middle-sized cities across ChinaĪnd an increasing number of children with hearing loss areĭiagnosed shortly after birth. The American newborn hearing screening project began in 1964 and With an incidence of approximately one case among 1,000 newborns. Hearing loss is the most common human birth defect, The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. The first screening test was carried out using otoacoustic emissions (OAEs). One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness‑susceptibility genes. The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes.

Dna sequencing sequencher heterozygous mutations