A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family

S. Amer Riazuddin, Afshan Yasmeen, Qingjiong Zhang, Wenliang Yao, Muhammad Farooq Sabar, Zahoor Ahmed, Sheikh Riazuddin, J. Fielding Hejtmancik

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE. To identify the disease locus of autosomal recessive congenital nuclear cataracts in a consanguineous Pakistani family. METHODS. A large Pakistani family with multiple individuals affected by autosomal recessive congenital cataracts was ascertained. Patients were examined, blood samples were collected, and DNA was isolated. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two-point lod scores were calculated, and haplotypes were formed by inspection. RESULTS. In the genome-wide scan, a maximum lod score of 2.89 was obtained for marker D19S414 on 19q13. Fine mapping using D19S931, D19S433, D19S928, D19S225, D19S416, D19S213, D19S425, and D19S220 markers from the Généthon database showed that markers in a 14.3-cM (12.66-Mb) interval flanked by D19S928 and D19S420 cosegregated with the cataract locus. Lack of homozygosity further suggests that the cataract locus may lie in a 7-cM (4.3-Mb) interval flanked by D19S928 proximally and D19S425 distally. On fine mapping, a maximum lod score of 3.09 was obtained with D19S416 at θ = 0. CONCLUSIONS. Linkage analysis identified a new locus for autosomal recessive congenital nuclear cataracts on chromosome 19q13 in a consanguineous Pakistani family.

Original languageEnglish (US)
Pages (from-to)623-626
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume46
Issue number2
DOIs
StatePublished - Feb 2005
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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