Prenatal Screening for the35delG GJB2, Del (GJB6-D13S1830), and Del (GJB6-D13S1854) Mutations in the Romanian Population

Abstract

Our study suggests a need for detecting the carriers. This is the first step for the construction of a national database and provides information for health planners and policy makers to help them in planning programs and allocation resources. The molecular testing was well received by pregnant women and appears to be feasible and highly acceptable.

GJB2 Gene Testing, Etiologic Diagnosis and Genetic Counseling in Romanian Persons With Prelingual Hearing Loss

“…Two deletions in the GJB6 gene, namely del(GJB6-D13S1830) encompassing 309 kb [3][4][5] and del(GJB6-D13S1854) spanning 232 kb, have been shown to be a common cause of HL as well. The findings of our previous work indicated no detection of deletions in the GJB6 gene in Romanian population [6] and suggested exclusion of GJB6 gene from the present study.…”

“…We introduced β-actin (294 pb) as an internal control to monitor efficiency of both reactions ( Fig. 1) [6].…”

GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss

“…In Romania, there are only two research studies which have explored the presence of GJB6 mutations, one with 45 patients with hearing loss and having a cochlear implant (38) and the other one with 350 pregnant women without hearing impairment (39). None of the subjects within the two studies has been identified with del(GJB6-D13S1830) or del(GJB6-D13S1854) mutations.…”

Letter to the Editor: Detection of the GJB2 gene mutations in two children with hearing impairment

“…β-actin was introduced as an internal control of PCR (Polymerase Chain Reaction) reactions. 200 ng genomic DNA was amplified following the PCR conditions described in our previously study (7).…”