title: Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
abstract: BACKGROUND
  Current methods for the molecular diagnosis of the 21-hydroxylase deficiency variant of congenital adrenal hyperplasia use cumbersome combinations of Southern blotting and polymerase chain reaction (PCR). The aim of the present study was to develop a practical genetic test for the unambiguous diagnosis of this condition, and to use this procedure to determine the range of mutations in Scottish patients. In addition, we wished to obtain further information to that currently available in the literature regarding the correlation of genotype with phenotype in any identified carriers.
  
  
  METHODS
  We studied five Scottish probands and their family members. To try to obviate the need for Southern blotting, we investigated a technique that uses the oligoligation chain reaction after gene-specific PCR.
  
  
  RESULTS
  We found a spectrum of mutations in the ten unrelated mutant alleles studied. These consisted of at least three different 30-kb deletions, two intron 2 splice-site mutations and single occurrences of the 1172N, V281L and R356W substitutions.
  
  
  CONCLUSIONS
  The genotype-phenotype correlations agreed with those previously described. In addition, our results suggest that there is no predominant Scottish genotype.
authors.affiliation: Department of Pathological Biochemistry, Glasgow Royal Infirmary, North Glasgow University Hospitals NHS Trust, UK.
authors.forename: Janet E
authors.initials: JE
authors.lastname: Hogg
authors.forename: Dairena
authors.initials: D
authors.lastname: Gaffney
authors.forename: Ralph D
authors.initials: RD
authors.lastname: Hector
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Coleman
authors.forename: A M
authors.initials: AM
authors.lastname: Wallace
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000483:Alleles; D001345:Autoradiography; D015139:Blotting, Southern; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D012606:Scotland
chemical_list: D022821:RNA Splice Sites