Skip to main content
OSTI.GOVU.S. Department of Energy Office of Scientific and Technical Information
U.S. Department of Energy
Office of Scientific and Technical Information
 

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

Journal Article · · Proc. Natl. Acad. Sci. U.S.A.; (United States)
; ; ; ; ;
Genomic DNAs from twelve Japanese patients with steroid 21-hydroxylase deficiency were analyzed by Southern blot hybridization. A 3.7-kilobase (kb) Taq I and a 1.7-kb Pvu II restriction endonuclease fragment that correspond to a 21-OHase B gene were absent from the DNA of two unrelated patients with the salt-wasting form of the disease. However, a 10.5-kb Bgl II fragment corresponding to the region encompassing the 21-OHase B gene was still present in these two patients. The genes encoding 21-OHase were cloned from one of these two patients, who was homozygous by descent for HLA-A26;B39;C4A3;C4B1;DR4. Restriction endonuclease mapping as well as partial nucleotide sequencing analysis revealed that the 21-OHase B gene of the patient has been converted to the pseudogene, 21-OHase A, as far as the critical 0.5-kb sequence was concerned. Thus, the defect was due to both chromosomes each carrying two copies of 21-OHase A pseudogene and lacking functional 21-OHase B gene.
Research Organization:
Kyushu Univ., Fukuoka (Japan)
OSTI ID:
6879265
Journal Information:
Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 84:22; ISSN PNASA
Country of Publication:
United States
Language:
English

Similar Records

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia
Journal Article · Sat Aug 01 00:00:00 EDT 1987 · Proc. Natl. Acad. Sci. U.S.A.; (United States) · OSTI ID:5175171
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
Journal Article · Wed Jun 01 00:00:00 EDT 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA) · OSTI ID:5563642
Chromosomal organization of the human major histocompatibility complex class I gene family
Journal Article · Tue Jan 31 23:00:00 EST 1989 · J. Exp. Med.; (United States) · OSTI ID:6353971

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ASIA
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGY
CHROMOSOMES
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
ENZYMES
ESTERASES
GENES
GENETICS
HEREDITARY DISEASES
HUMAN POPULATIONS
HYBRIDIZATION
HYDROLASES
HYDROXYLASES
ISOTOPES
JAPAN
LIGHT NUCLEI
MOLECULAR BIOLOGY
NUCLEASES
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PATIENTS
PHOSPHODIESTERASES
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
POPULATIONS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS