Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran.

ABSTRACT:

Purpose

To estimate carrier frequencies of CYP1B1 mutations p.Gly61Glu and p.Arg368His, respectively, in Talesh and the east of Guilan province in Iran with a maximum error of 2%. Previously, it was shown that these CYP1B1 mutations may be relatively prevalent in these regions.

Methods

Population-based screenings were performed. DNA was extracted from saliva samples of 1036 individuals from Talesh and 3029 individuals from the east of Guilan. P.Gly61Glu and p.Arg368His screenings were performed, respectively, by RFLP and ARMS-based PCR protocols. For confirmation, the DNA of individuals with mutations was sequenced using the Sanger protocol.

Results

Nine individuals from Talesh (0.86%; 95%CI: 0.45-1.64%) carried the p.Gly61Glu mutation, and 73 from the e

SUBMITTER: Heshmati A 

PROVIDER: S-EPMC8593531 | biostudies-literature | 2021 Oct-Dec

REPOSITORIES: biostudies-literature