[Gene mapping of a pedigree with autosomal dominant congenital cataract].
OBJECTIVE
To map the gene for autosomal dominant congenital cataract (ADCC) in a Chinese family.


METHODS
Blood samples were collected from 14 members of this family. Linkage analysis was carried out using short tandem repeat polymorphism (STRP) in close proximity to genes and loci previously reported involving in human cataract. Two-point linkage analysis lod scores were calculated.


RESULTS
The mutation gene locus in this pedigree was mapped to 17q, an 11.78-cM interval between markers D17S1288 and D17S933. Significant positive maximum LOD scores (Z(max)) at recombination fraction (theta) 0, were obtained for markers D17S805 (Z(max) = 2.03), D17S1294 (Z(max) = 2.49), and D17S1293 (Z(max) = 2.22).


CONCLUSIONS
The mutation gene in this ADCC pedigree is located at chromosome 17q. This is the first report of an autosomal dominant congenital nuclear cataracts located at this locus. This result will be helpful for further studying of the pathogenesis of cataract.
Qi
Yan-hua
YH
Department of Ophthalmology, the Second Affiliated Hospital, Haerbin Medical University, Haerbin 150086, China. qyh64@hotmail.com
Jia
Hong-yan
HY
Huang
Shang-zhi
SZ
Lin
Hui
H
Gu
Jing-zhi
JZ
Su
Hong
H
Zhang
Tie-ying
TY
Gao
Ya
Y
D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002681:China; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree