Gene mapping in Avellino corneal dystrophy pedigree
10.3980/j.issn.1672-5123.2016.10.34
- VernacularTitle:Avellino角膜营养不良家系致病基因的定位研究
- Author:
Wen-Ping, CAO
;
Hai-Gang, YUAN
;
Xue, LI
;
Ping, LIU
;
Qi, HU
- Publication Type:Journal Article
- Keywords:
corneal dystrophy;
autosomal dominant;
linkage analysis;
gene mutation
- From:
International Eye Science
2016;16(10):1921-1923
- CountryChina
- Language:Chinese
-
Abstract:
AIM:To point the susceptible gene in Avellino corneal dystrophy family with autosomal dominant inheritance.
●METHODS: Genomic DNA was extracted from the peripheral blood samples of all individuals of the pedigree. Several microsatellite makers were selected for gene scan in the hot regions of mutation. Linkage analysis was carried out using a Linkage software package. The haplotype data were processed using Cyrillic software to define the region of the disease gene.
●RESULTS: ln our pedigree, significant evidence of linkage was obtained at marker D5S396 and D5S393 [LOD score (Z)=3. 01, recombination fraction (θ)=0. 00]. The haplotype analysis of our pedigree was located between the microsatellite markers D5S808 and D5S638.
●CONCLUSION:The pathogenic gene of the Avellino corneal dystrophy pedigree is traced to a 11. 2 cM region in the chromosome 5q.
