Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

ABSTRACT:

Purpose

To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family.

Methods

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.

Results

Linkage analysis mapped the disease-causing gene to Xp22.3 with a significant two-point LOD score (Z) at marker DXS7103 (Z=3.16, recombination fraction [theta]=0). Haplotype analysis in this region supported the result. In analyzing the candidate gene in the linked region, we found a

SUBMITTER: Zhou P 

PROVIDER: S-EPMC2408774 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature