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Abstract

Abstract

Primary ciliary dyskinesia is a heterogeneous autosomal recessive genetic disorder that leads to ultrastructural and functional defects of cilia. This leads to recurrent and persistent respiratory infections, sinusitis, otitis media, and male infertility. In a fraction of patients situs inversus is present. Primary ciliary dyskinesia can result from mutation in at least nine different genes. However, these mutations are responsible for the disease in 40 percent of patients. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for motility.

We identified two large inbred Qatari families with multiple individuals affected by primary ciliary dyskinesia. As a first step we excluded all known genes associated with the disorder. We then performed whole genome genotyping using 200K SNP chips on an Illumina platform followed by homozygosity mapping. In one family two significant homozygous regions were identified, a 35 Mb region on the long arm of chromosome 3 and a 46 Mb region on the long arm of chromosome 5. In the second family single homozygous regions was identified on the short arm of chromosome 5 spanning 3.2Mb. Candidate genes were prioritized based on conservation through evolution and expression in cilia. Examination of candidate genes by resequencing is currently being performed.

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/content/papers/10.5339/qfarf.2010.BMP22
2010-12-13
2020-10-24
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References

  1. A. Al Sarraj, I. Janahi, A. Sadoon, A. Al-Dosari, S. Mohammed, J. Al-Alami, H. El Shanti, Homozygosity mapping identifies additional loci for primary ciliary dyskinesia in two Qatari families, QFARF Proceedings, 2010, BMP22.
    [Google Scholar]
http://instance.metastore.ingenta.com/content/papers/10.5339/qfarf.2010.BMP22
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