The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing.
- Author:
CUI QINGJIA
;
HUANG LIHUI
;
RUAN YU
;
DU YANSHUN
;
ZHAO LIPING
;
YANG JUN
;
ZHANG WEI
- Publication Type:Journal Article
- MeSH:
Alleles;
Beijing;
Connexin 26;
Connexins;
genetics;
DNA Mutational Analysis;
Deafness;
genetics;
Genetic Testing;
Heterozygote;
Humans;
Infant, Newborn;
Mutation;
Neonatal Screening;
Polymorphism, Genetic
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2015;29(13):1164-1167
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.
METHOD:We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.
RESULT:Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism.
CONCLUSION:The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.
