RT Journal Article
SR Electronic
T1 A locus for primary ciliary dyskinesia maps to chromosome 19q
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 241
OP 244
DO 10.1136/jmg.37.4.241
VO 37
IS 4
A1 M Meeks
A1 A Walne
A1 S Spiden
A1 H Simpson
A1 H Mussaffi-Georgy
A1 H D Hamam
A1 E L Fehaid
A1 M Cheehab
A1 M Al-Dabbagh
A1 S Polak-Charcon
A1 H Blau
A1 A O'Rawe
A1 H M Mitchison
A1 R M Gardiner
A1 E Chung
YR 2000
UL http://jmg.bmj.com/content/37/4/241.abstract
AB 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.