Document Detail

Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
MedLine Citation:
PMID:  12038604     Owner:  NLM     Status:  MEDLINE    
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.
Janet E Hogg; Dairena Gaffney; Ralph D Hector; Michelle M Coleman; A M Wallace
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of clinical biochemistry     Volume:  39     ISSN:  0004-5632     ISO Abbreviation:  Ann. Clin. Biochem.     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-05-31     Completed Date:  2003-01-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0324055     Medline TA:  Ann Clin Biochem     Country:  England    
Other Details:
Languages:  eng     Pagination:  293-303     Citation Subset:  IM    
Department of Pathological Biochemistry, Glasgow Royal Infirmary, North Glasgow University Hospitals NHS Trust, UK.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis*,  enzymology,  genetics*,  physiopathology
Blotting, Southern
DNA Mutational Analysis / methods
Genetic Testing / methods*
Infant, Newborn
Introns / genetics
Mutation / genetics*
Polymerase Chain Reaction / methods*
Polymorphism, Genetic / genetics
RNA Splice Sites / genetics
Reg. No./Substance:
0/RNA Splice Sites

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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