| 摘要 |
<P>PROBLEM TO BE SOLVED: To provide a means for identifying a novel causative gene of diffuse hypomyelination (HCAHC) and suitably diagnosing much more cases. <P>SOLUTION: For three HCAHC patients originated in three lineages having no blood relationship, all exome sequence analysis is performed using the next generation sequencer, and as a result of earnest analysis on huge lead sequence, it is found that mutations of POLR3B gene and POLR3A gene which encode a subunit of RNA polymerase III concerned in transfer of low molecular weight noncoding RNA is etiology mutation of HCAHC. The HCAHC is autosomal recessive disorder and the patient has the mutation in the home or complex hetero. <P>COPYRIGHT: (C)2013,JPO&INPIT |
