Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions.
Mutations in the GJB2 gene, which encodes the protein connexin 26, are a major cause of autosomal recessive deafness. The most frequent mutation, 35delG, has a carrier frequency as high as 4% in some countries, and this frequency varies in different ethnic groups. Most of the Brazilian population results from interethnic crosses of people from three continents (European, African, and Amerindian), and the proportion of each varies according to the geographical region of the country. To verify if the different ethnic composition of Brazilian regions leads to variable 35delG carrier frequencies, we performed the screening of the 35delG mutation using DNA from dried-blood filter paper samples obtained from 1,856 newborns from 10 cities in different regions. The 35delG mutation was found in 25 individuals (1.35%), indicating an overall carrier frequency of 1:74. This frequency was 1:47 in the north, 1:64 in the southeast, 1:85 in the south and 1:124 in the northeast, but these differences were not significant. The overall frequency of the 35delG allele was estimated as 0.0067, and comparison between expected and observed genotype frequencies indicates that the population is in Hardy-Weinberg equilibrium.
Oliveira
C A
CA
Centro de Biologia Molecular e Engenharia Genética/ CBMEG, Laboratório de Genética Humana, Saã Paulo, Brazil.
Pimpinati
C J
CJ
Alexandrino
F
F
Magna
L A
LA
Maciel-Guerra
A T
AT
Sartorato
E L
EL
D000483:Alleles; D001938:Brazil; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26