Molecular analysis of SLC26A4 gene in a Chinese deafness family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 376-379, 2005.
Article
in English
| WPRIM
| ID: wpr-280047
ABSTRACT
<p><b>OBJECTIVE</b>To identify the pathogenic gene for a non-syndromic hearing loss family.</p><p><b>METHODS</b>Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.</p><p><b>RESULTS</b>Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.</p><p><b>CONCLUSION</b>The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Membrane Transport Proteins
/
Diagnostic Imaging
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Tomography, X-Ray Computed
/
Polymerase Chain Reaction
/
Family Health
/
Deafness
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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