Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome

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...

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Bibliographic Details
Published in:Human genetics 1988-09, Vol.80 (1), p.31-38
Main Authors: KNOERS, N, VAN DER HEYDEN, H, VAN OOST, B. A, ROPERS, H. H, MONNENS, L, WILLEMS, J
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Chromosome Mapping
Deamino Arginine Vasopressin
Diabetes Insipidus - diagnosis
Diabetes Insipidus - genetics
DNA Restriction Enzymes
Endocrinopathies
Female
Gene Frequency
Genetic Linkage
Genotype
Humans
Hypothalamus. Hypophysis. Epiphysis (diseases)
Kidney - physiopathology
Male
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Pedigree
X Chromosome
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00451451