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International Ophthalmology

Published in:

01-06-2018 | Original Paper

Fine mapping of chromosome 9 locus associated with congenital cataract

Authors: Haiba Kaul, Shabbir Hussain, Ghulam Mustafa, Shagufta Naz

Published in: International Ophthalmology | Issue 3/2018

Abstract

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.

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Title: Fine mapping of chromosome 9 locus associated with congenital cataract
Authors: Haiba Kaul
Shabbir Hussain
Ghulam Mustafa
Shagufta Naz
Publication date: 01-06-2018
Publisher: Springer Netherlands
Published in: International Ophthalmology / Issue 3/2018
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI: https://doi.org/10.1007/s10792-017-0581-8

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Fine mapping of chromosome 9 locus associated with congenital cataract

Abstract

Purpose

Methods

Results

Conclusion

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Abstract

Purpose

Methods

Results

Conclusion

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