Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 565-569, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291729
ABSTRACT
<p><b>OBJECTIVE</b>To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Based on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.</p><p><b>CONCLUSION</b>p.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ornithine Carbamoyltransferase
/
Molecular Sequence Data
/
Base Sequence
/
Epidemiology
/
Amino Acid Sequence
/
Sequence Homology, Amino Acid
/
Sequence Analysis, DNA
/
Age of Onset
/
Ornithine Carbamoyltransferase Deficiency Disease
/
Genetics
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
Similar
MEDLINE
...
LILACS
LIS