Founder effect of two families with TGFBI related Thiel-Behnke corneal dystrophy.
- Author:
Xue-jiao QIN
1
;
Yong-yuan GUO
;
Shi YAN
;
Long-tao LI
;
Hong-chen LIU
;
Bao-guang ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Corneal Dystrophies, Hereditary; diagnosis; genetics; Exons; Extracellular Matrix Proteins; genetics; Female; Founder Effect; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; Transforming Growth Factor beta; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(5):489-492
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the transforming growth factor beta induced (TGFBI; BIGH3) gene mutation and founder effect of two large Chinese families clinically diagnosed as Thiel-Behnke corneal dystrophy.
METHODSFifteen members including 13 affected and 2 healthy in family A, 14 members including 6 affected and 8 healthy in family B, as well as 20 other unrelated healthy individuals were tested for TGFBI gene mutation. Haplotype analysis and clinical examination were also carried out in the two families.
RESULTSIn exon 12 of the TGFBI gene, 1664G to A change was detected in all the patients, which leads to an amino acid replacement of arginine with glutamine (p.Arg555Gln). Members of the two families share some similar haplotypes.
CONCLUSIONGenetic analysis is helpful in the diagnosis of corneal dystrophy. The two families may come from a same ancestor.
