Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family.
OBJECTIVE
Myopia and its extreme form, high myopia, are common vision disorders worldwide, especially in Asia. Identifying genetic markers is a useful step toward understanding the genetic basis of high myopia, particularly in the Chinese population, where it is highly prevalent. This study was conducted to provide evidence of linkage for autosomal dominant high myopia to a locus on chromosome 5p13.3-p15.1 in a large Chinese family.


METHODS
After clinical evaluation, genomic DNA from 29 members of this family was genotyped. A genome-wide screen was then performed using 382 markers with an average inter-marker distance of 10 cM, and two-point linkage was analyzed using the MLINK program. Mutation analysis of the candidate genes was performed using direct sequencing.


RESULTS
Linkage to the known autosomal dominant high myopia loci was excluded. The genome-wide screening identified a maximum two-point LOD score of 3.71 at θ=0.00 with the microsatellite marker D5S502. Fine mapping and haplotype analysis defined a critical region of 11.69 cM between D5S2096 and D5S1986 on chromosome 5p13.3-p15.1. Sequence analysis of the candidate genes inside the linked region did not identify any causative mutations.


CONCLUSIONS
A genetic locus was mapped to chromosome 5p13.3-p15.1 in a large Chinese family with autosomal dominant high myopia.
Ruijin Hospital, State Key Laboratory of Medical Genomics, Shanghai Institute of Endocrinology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jun-Hua
JH
Ma
Shu-Hong
SH
Shen
Guo-Wei
GW
Zhang
Dong-Sheng
DS
Zhao
Chao
C
Xu
Chun-Ming
CM
Pan
He
H
Jiang
Zhi-Quan
ZQ
Wang
Huai-Dong
HD
Song
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
D005819:Genetic Markers