Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations / 南方医科大学学报
Journal of Southern Medical University
;
(12): 669-672, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-269025
ABSTRACT
<p><b>OBJECTIVE</b>To discuss the genetic diagnosis of congenital adrenal hyperplasia (CAH) and investigate the resource of gene mutations in CAH.</p><p><b>METHOD</b>Enzymatic methods with restriction endonucleases that specifically recognized the mutation sites were used to detect the gene mutations in patients with CAH and their relatives. Polymerase chain reaction and direct sequencing were used to identify the mutations in 21-hydroxylase gene, and short tandem repeat (STR) typing was used to determine the sources of the mutations.</p><p><b>RESULTS</b>One CAH patient had two known mutations in 21-hydroxylase gene, namely the I2g and I172N mutations. The former mutation was inherited from the biological mother and the latter was not inherited.</p><p><b>CONCLUSION</b>The 9 common mutations of CAH are also the hotspots for new mutations.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Steroid 21-Hydroxylase
/
Polymerase Chain Reaction
/
Point Mutation
/
Gene Deletion
/
Adrenal Hyperplasia, Congenital
/
Diagnosis
/
Genetics
/
Genotype
/
Mutation
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Journal of Southern Medical University
Year:
2012
Type:
Article
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