c.464A>G variation in the GJB2 gene is detected in a Han Chinese family

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

P-96: Polymorphisms in the 5

Allelic Variation of MYF5 Gene Detected in the Camelus bactrianus

The myogenic factors (MYF) 5 gene has been reported to contribute to muscle growth and development, therefore they are considered as candidate genes for growth and meat quality related traits. The MYF5 gene is expressed during proliferation of myoblasts and comprises 3 exons. To ascertain whether there is any variation in the camel MYF5 gene, we have used a polymerase chain reaction-single stra...

A novel dominant GJB2 (DFNA3) mutation in a Chinese family

To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation...

Human leukocyte antigen (HLA)-Cw0303, HLA-Cw04, and HLA-Cw07 polymorphisms are associated with susceptibility of rheumatoid arthritis in Chinese Han patients from Southern China

Objective(s): This study aimed to investigate the association between human leukocyte antigen Cw (HLA-Cw) polymorphisms and rheumatoid arthritis (RA) in Chinese Han patients in the Jiangsu area (Southern China).Materials and Methods: Polymerase chain reaction-sequence specific primers were used to detect HLA-Cw01–08 of 201 RA patients an...