Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 786-791, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-345362
ABSTRACT
<p><b>OBJECTIVE</b>To assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.</p><p><b>METHODS</b>For 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.</p><p><b>RESULTS</b>Eleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).</p><p><b>CONCLUSION</b>There seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Steroid 21-Hydroxylase
/
Adrenal Hyperplasia, Congenital
/
Alleles
/
Genetics
/
Mutation
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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