Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

doi:10.1371/journal.pone.0119806

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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PloS one - 1 Jan 2015

Maria Maleeha, Ajmal Muhammad, Azam Maleeha, Waheed Nadia Khalida, Siddiqui Sorath Noorani, Mustafa Bilal, Ayub Humaira, Ali Liaqat, Ahmad Shakeel, Micheal Shazia, Hussain Alamdar, Shah Syed Tahir Abbas, Ali Syeda Hafiza Benish, Ahmed Waqas, Khan Yar Muhammad, den Hollander Anneke I, Haer-Wigman Lonneke, Collin Rob W J, Khan Muhammad Imran, Qamar Raheel, Cremers Frans P M

Abstract excerpt

BACKGROUND: Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal...

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Identifiers

PMID: 25775262
DOI: 10.1371/journal.pone.0119806
PMCID: PMC4361598

Genes

RPGRIP1
AIPL1
CNGA1
CNGB1
CRB1
LCA5
TULP1

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