Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.

ABSTRACT:

Purpose

A linkage study on autosomal recessive high myopia (arHM) has not been reported, although several loci for autosomal dominant high myopia (adHM) have been mapped. Data from a consanguineous Chinese family with arHM were collected to map the genetic locus associated with this condition.

Methods

Phenotypic information and DNA samples were collected from family members. A genome-wide linkage scan combined with homozygosity mapping was performed by using 382 microsatellite DNA markers from the entire genome spaced at intervals of about 10 cM.

Results

The pedigree and clinical data of the family indicate that the high myopia is autosomal recessive. A genome-wide scan of chromosomes 1-22 gave a LOD score greater than 1.0 for 22 markers. Linkage to most of these mark

SUBMITTER: Yang Z 

PROVIDER: S-EPMC2635848 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature