Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis
Abstract
Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocortiocoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provides evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families. 34 refs., 3 figs., 2 tabs.
- Authors:
-
- Univ. College London Medical School, London (United Kingdom); and others
- Publication Date:
- OSTI Identifier:
- 443620
- Resource Type:
- Journal Article
- Journal Name:
- Journal of Clinical Endocrinology and Metabolism
- Additional Journal Information:
- Journal Volume: 80; Journal Issue: 10; Other Information: PBD: Oct 1995
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; GENETIC MAPPING; DNA-CLONING; METABOLIC DISEASES; ETIOLOGY; GENETICS; PATIENTS; HEREDITARY DISEASES; M CODES; HUMAN CHROMOSOMES; RECEPTORS; MINERALOCORTICOIDS; RECESSIVE MUTATIONS; BIOLOGICAL MARKERS; STATISTICS
Citation Formats
Chung, E, Hanukoglu, A, Rees, M, Thompson, R, and Gardiner, R M. Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. United States: N. p., 1995.
Web. doi:10.1210/jc.80.11.3341.
Chung, E, Hanukoglu, A, Rees, M, Thompson, R, & Gardiner, R M. Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. United States. https://doi.org/10.1210/jc.80.11.3341
Chung, E, Hanukoglu, A, Rees, M, Thompson, R, and Gardiner, R M. 1995.
"Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis". United States. https://doi.org/10.1210/jc.80.11.3341.
@article{osti_443620,
title = {Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis},
author = {Chung, E and Hanukoglu, A and Rees, M and Thompson, R and Gardiner, R M},
abstractNote = {Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocortiocoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provides evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families. 34 refs., 3 figs., 2 tabs.},
doi = {10.1210/jc.80.11.3341},
url = {https://www.osti.gov/biblio/443620},
journal = {Journal of Clinical Endocrinology and Metabolism},
number = 10,
volume = 80,
place = {United States},
year = {Sun Oct 01 00:00:00 EDT 1995},
month = {Sun Oct 01 00:00:00 EDT 1995}
}