The epidemiological researches show that the mutations of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes have played an important role in the hearing loss. This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL) patients in northwest of China. Mutational analy...

OBJECTIVE To investigate the molecular etiologic causes of sporadic nonsyndromic hearing loss in Chinese children. METHODS 179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA. RESULTS The incidence of positive genetic er...

We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyg...

The personality disorder (PD) construct continues to be controversial when applied to children and adolescents. Nevertheless, recent research indicates that PDs do occur in youth, and that PDs in youth have meaningful correlates and consequences. We provide a brief review of research on this topic from the past year, and we suggest that evidence for the reality of PDs in youth should be complem...

sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

Background & Aims: SLC26A4 gene mutations are the second identifiable genetic cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) after GJB2 mutations and are currently investigated in molecular diagnosis.In databases, several potential STR markers related to this region have been introduced. In this investigation, the characteristics and informativeness of D7S2425 CA repeat STR mar...