Biomaterial Database

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. 1996

C A Skinner, and G Rumsby, and J W Honour

Department of Molecular Pathology, University College London Medical School, United Kingdom.

The adrenal 11 beta-hydroxylase is a mitochondrial P450 enzyme encoded by the CYP11B1 gene, which is situated on chromosome 8q22 in tandem with the gene for aldosterone synthase (CYP11B2). Deficiency of 11 beta-hydroxylase results in the inability to convert 11-deoxycortisol to cortisol and accounts for 5-8% of cases of congenital adrenal hyperplasia. In the following study the CYP11B1 genes from eight individuals with 11 beta-hydroxylase deficiency were screened for mutations using single strand conformation polymorphism (SSCP) analysis. Sequence analysis of variant exons revealed a 28 bp deletion and a 5 bp duplication exon 2 and five missense mutations, G267R, G267D, Q356X, R427H and C494F, distributed throughout the gene. One of these mutations, G267R, and a G to A transversion at the third nucleotide position of codon 318 occur at the +1 position of the splice donor sites. Mutations were neither the result of gene conversion nor nonhomologous recombination between the two closely related CYP11B genes.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260	Female		Females
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D005810	Multigene Family	A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)	Gene Clusters,Genes, Reiterated,Cluster, Gene,Clusters, Gene,Families, Multigene,Family, Multigene,Gene Cluster,Gene, Reiterated,Multigene Families,Reiterated Gene,Reiterated Genes