INVESTIGATION OF EXON 6 CLUSTER MUTATION IN CYP21A2 GENE IN IRANIAN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

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ASGHARI KOLLAHI NEDA; Baghbani Arani Fahimeh; SHOJAEI AZADEH

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Journal: Research in Medicine Year:2018 | Volume:42 | Issue:2 Page(s): 116-120

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Information Journal Paper

Title

INVESTIGATION OF EXON 6 CLUSTER MUTATION IN CYP21A2 GENE IN IRANIAN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA

Author(s)

ASGHARI KOLLAHI NEDA | Baghbani Arani Fahimeh | SHOJAEI AZADEH | Issue Writer Certificate

Keywords

21-HYDROXYLASE DEFICIENCYQ1

CAHQ1

CONGENITAL ADRENAL HYPERPLASIA CYP21A2Q1

Abstract

Background: Congenital Adrenal Hyperplasia (CAH) is an inherited hereditary autosomal recessive heredity, which is often induced by mutation in the CYP21A2 gene. The aim of the present study was to determine the prevalence of cluster exon 6 mutation among patients with CAH deficient in 21-OHD enzyme in Iranian population.Materials and Methods: In the current descriptive study, blood samples were collected from 25 patients with CAH who referred to Ali Asghar Hospital in Tehran. After extraction of genomic DNA, the region containing the cluster gene exon 6 gene was amplified using PCR and then sequenced. Finally, by analyzing sequences, the frequency of cluster mutation exon 6 was determined in the population studied.Results: A total of 15 patients (60%) had a cluster mutation of exon 6, so that in all of them, three mutations V236E, I236N, and M238K were observed as heterozygote. This mutation in the healthy parents of these patients was also identified as heterozygote.Conclusion: It seems that cluster E6 mutation in the heterozygote form alone does not lead to disease, and it is necessary to examine the presence of other mutations in the gene. This mutation may be present as compound heterozygote along with other mutations in the rest of the exons in patients.

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References

MOLECULAR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA IN IRAN: FOCUSING ON CYP21A2 GENE

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APA: Copy

ASGHARI KOLLAHI, NEDA, Baghbani Arani, Fahimeh, & SHOJAEI, AZADEH. (2018). INVESTIGATION OF EXON 6 CLUSTER MUTATION IN CYP21A2 GENE IN IRANIAN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA. PAJOUHESH DAR PEZESHKI, 42(2 ), 116-120. SID. https://sid.ir/paper/41977/en

Vancouver: Copy

ASGHARI KOLLAHI NEDA, Baghbani Arani Fahimeh, SHOJAEI AZADEH. INVESTIGATION OF EXON 6 CLUSTER MUTATION IN CYP21A2 GENE IN IRANIAN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA. PAJOUHESH DAR PEZESHKI[Internet]. 2018;42(2 ):116-120. Available from: https://sid.ir/paper/41977/en

IEEE: Copy

NEDA ASGHARI KOLLAHI, Fahimeh Baghbani Arani, and AZADEH SHOJAEI, “INVESTIGATION OF EXON 6 CLUSTER MUTATION IN CYP21A2 GENE IN IRANIAN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA,” PAJOUHESH DAR PEZESHKI, vol. 42, no. 2 , pp. 116–120, 2018, [Online]. Available: https://sid.ir/paper/41977/en

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