Enzyme Research

Enzyme Research / 2016 / Article / Tab 2

Research Article

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

Table 2

Distribution of Iraqi CAH cases with 21-hydroxylase enzyme deficiency with large deletions/conversions of CYP21A2 gene.

Types of deletions/conversionsNumber (%)

P30L, I2Splice, Del 8 bp 3 (4.8)
P30L, I2Splice, Del 8 bp, I172N2 (3.2)
Cluster E6, V281L, L307 frameshift, Q318X, R356W5 (8.1)
Complete CYP21A2 gene deletion2 (3.2)

Total12 (19.3)