ORIGINAL RESEARCH

Carrier frequency of GJB2 and GALT mutations associated with sensorineural hearing loss and galactosemia in the Russian population

About authors

1 DNA-Technology LLC, Moscow, Russia

2 National Research Center — Institute of Immunology, Moscow, Russia

3 Laboratory of Bioactive Compounds, Institute of Pharmacy,
I. M. Sechenov First Moscow State Medical University, Moscow, Russia

Correspondence should be addressed: Dmitry Abramov
Kashirskoe sh., d. 24, korp. 2, Moscow, Russia, 115478; ur.liam@vomarba.d.d

Received: 2016-12-06 Accepted: 2016-12-12 Published online: 2017-01-19
|

This article continues a series of works estimating carrier frequencies of mutations associated with the development of common monogenic disorders in the Russian population. The study aimed to establish the frequency of GJB2 and GALT mutations in first-time blood donors. Genotyping of 1000 first-time blood donors who identify themselves as Russians and permanently reside in the Russian Federation detected 37 carriers of GJB2 mutations associated with sensorineural hearing loss (carrier frequency in the sample was 3.7 %, or 1 : 27) and 6 carriers of GALT mutations associated with galactosemia (carrier frequency in the sample was 0.6 %, or 1 : 167). In one carrier, concurrent mutations were detected; thus, in total 42 carriers of GJB2 and GALT mutations were detected (carrier frequency in the sample was 4.2 %, or 1 : 24).

КОММЕНТАРИИ (0)