| Autor: |
Fehaid, E.L., Meeks, M., Cheehab, M., Walne, A., Al-Dabbagh, M., Spiden, S., Mussaggi-Georgy, H., O'Rawe, A., Blau, H., Mitchison, H.M., Polak-Charcon, S., Gardiner, R.M., Chung, E., Simpson, H., Hamam, H.D. |
| Zdroj: |
Journal of Medical Genetics (JMG); April 1, 2000, Vol. 37 Issue: 4 p241-244, 4p |
| Abstrakt: |
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at α (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity. |
| Databáze: |
Supplemental Index |
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