Ontology highlight
ABSTRACT:
SUBMITTER: Zhou P
PROVIDER: S-EPMC2408774 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Zhou Pingtong P Wang Zhiqiang Z Zhang Jing J Hu Landian L Kong Xiangyin X
Molecular vision 20080530
<h4>Purpose</h4>To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family.<h4>Methods</h4>Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic software to manage pedigree and haplotype data and used MLINK to calculate LOD scores. Dye-terminator cycle-sequencing was used to detect the sequence variation of polymerase chain reaction (PCR)-amplified exons. ...[more]