title: Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome.
abstract: Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.
authors.affiliation: Department of Human Genetics, Catholic University Nijmegen, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: Knoers
authors.forename: H
authors.initials: H
authors.lastname: van der Heyden
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: L
authors.initials: L
authors.lastname: Monnens
authors.forename: J
authors.initials: J
authors.lastname: Willems
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D003894:Deamino Arginine Vasopressin; D003919:Diabetes Insipidus / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004262:DNA Restriction Enzymes; D003894:Deamino Arginine Vasopressin