Related Experiment Video
Updated: Mar 1, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Fine mapping of chromosome 9 locus associated with congenital cataract
Haiba Kaul1, Shabbir Hussain2, Ghulam Mustafa3
1Genetics Division, Department of Livestock Production, Faculty of Animal Production and Technology, University of Veterinary and Animal Sciences, Ravi Campus, Pattoki, Pakistan. haibakaul@gmail.com.
Purpose:
The purpose of this study was to study the molecular basis of inherited autosomal recessive cataracts in Pakistan population and to identify the molecular defect segregating with the disease phenotype.
Methods:
Families having two or more affected individuals were identified through hospital, blood samples were collected and DNA was extracted. We employed the traditional strategy of linkage analysis using M13-labeled primers to map the already known genes for autosomal recessive cataract. Statistically, the data were evaluated through LOD score.
Results:
Ten families affected with autosomal receive congenital cataract were enrolled for this study. Overall, three families were linked to reported loci for autosomal recessive congenital cataract. Out of these, one family Bl05 was linked to a cataract locus at 9q13. Fine mapping of the chromosome 9 locus considerably delimited the previously reported linkage interval from 13.99 to 7.99 cM in this study.
Conclusion:
Our results reduced the linkage interval of previously reported cataract locus on chromosome 9, thus considerably reducing the number of candidate genes.
More Related Videos
10:10HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
Published on: March 31, 2019
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
