Total genome scan analysis in a single extended family for primary nocturnal enuresis: evidence for a new locus (ENUR3) for primary nocturnal enuresis on chromosome 22q11.
OBJECTIVE
In this study we focussed on a single large family to maximize the possibility of recognizing a single locus. This family alone could raise a lod score above 3, i.e. sufficient by tradition for assignment of a locus.


METHODS
The family consists of 11 children and 26 grandchildren in whom monosymptomatic primary nocturnal enuresis (PNE) is segregating in three generations. A genome scanning with about 800 polymorphic marker systems was used to localize a chromosome area for the trait and to narrow down the candidate region.


RESULTS
Total genome scan and multipoint analysis map PNE to chromosome 22 between the markers D22S446 and D22S343 with a multipoint lod score of 4.51.


CONCLUSIONS
In the candidate area for PNE, the gene GNAZ is mapped. GNAZ has a transducin function in eye and brain and is an obvious candidate gene for PNE.
Eiberg
H
H
University Institute of Medical Biochemistry and Genetics, Copenhagen, Denmark. he@rclink.imbg.ku.dk
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003718:Denmark; D004775:Enuresis / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics
D019204:GTP-Binding Proteins