R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 272-274, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-263798
ABSTRACT
<p><b>OBJECTIVE</b>Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.</p><p><b>METHODS</b>The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.</p><p><b>RESULTS</b>Two patients of the family showed the typical features of HOKPP the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.</p><p><b>CONCLUSION</b>The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Base Sequence
/
Calcium Channels
/
China
/
Polymerase Chain Reaction
/
Family Health
/
Hypokalemic Periodic Paralysis
/
Genetics
/
Mutation
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
Similar
MEDLINE
...
LILACS
LIS