Screening of common deaf genes in pregnant women and prevention of deafness at birth / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 339-342, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-239475
ABSTRACT
<p><b>OBJECTIVE</b>To determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.</p><p><b>METHODS</b>For 893 pregnant women, 2 mL peripheral venous blood was taken and DNA was extracted. A deafness DNA microarray screening was applied to such samples, and DNA sequencing was applied to husbands of women with positive screening results.</p><p><b>RESULTS</b>A total of 40 carriers were detected, with the overall mutation rate being 4.48%. Among such carriers, GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02%. GJB2 299A-T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%. IVS7-2A to G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%. There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation, with a mutation rate of 0.22%. IVS7-2A>G with GJB3 538C>T double heterozygous mutation was detected in 1 case, and IVS7-2A>G with GJB2 299A-T double heterozygous mutation was detected in another case, with the mutation rate of each being 0.11%. DNA sequencing has failed to find presence of mutations in the same gene in the husbands. The results of neonatal hearing follow-up were all normal.</p><p><b>CONCLUSION</b>Applications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pregnancy Complications
/
Prenatal Diagnosis
/
RNA, Ribosomal
/
Embryology
/
Genetic Testing
/
Connexins
/
Deafness
/
Diagnosis
/
Connexin 26
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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