Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
-
10.61186/ibj
-
8888
-
en
jalali
1386
10
1
gregorian
2008
1
1
12
1
online
1
fulltext
en
The Frequency of Eight Common Point Mutations in CYP21 Gene in Iranian Patients with Congenital Adrenal Hyperplasia
The Frequency of Eight Common Point Mutations in CYP21 Gene in Iranian Patients with Congenital Adrenal Hyperplasia
Related Fields
Related Fields
مقاله کامل
Full Length/Original Article
Background: Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. More than 95% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD). Females with severe, classic 21-OHD are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal salt wasting crisis if not treated. Methods: We applied allele specific PCR to detect the eight common mutations in the CYP21 gene in patients. Fifty unrelated patients with symptoms of classical CAH were studied. Results and Conclusion: Seventy percent of our subjects had these mutations. The most frequent mutations were found to be I2G and del-8bp (28% and 13%, respectively). The frequencies of other alleles were as following: I172N, 9% V281L, 3% exon 6 cluster (I236N, V237E and M239K), 4% Q318X, 9% R356W, 5% and P30L, 0%. The frequency of mutations did not differ substantially from other ethnics, however, a higher rate of del-8 bp (13%) was found in our population. The aim of this study was to detect common mutations for setting up a molecular method for prenatal diagnosis.
Congenital adrenal hyperplasia (CAH), CYP21 gene, Mutation
49
53
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-70&slc_lang=en&sid=1
Ali
Ramazani
علی
رمضانی
a_ramezani@pasteur.ac.ir
100319475328460057080
100319475328460057080
Yes
Kimia
Kahrizi
کیمیا
کهریزی
100319475328460057081
100319475328460057081
No
Maryam
Razaghiazar
مریم
رزاقی آذر
100319475328460057082
100319475328460057082
No
Nejat
Mahdieh
نجات
مهدیه
100319475328460057083
100319475328460057083
No
Paul
Koppens
Paul
Koppens
100319475328460057084
100319475328460057084
No