Gene Sequence Analysis Of Hypokalemic Periodic Paralysis Patients In A Family

Purpose of the Experiment: With the development of science andtechnology, people now have a more profound understanding fordiseases to the molecular level. Concept of ion channel diseaseis approaching the sight of people and being understood by allof us gradually. Familial Hypokalaemic Periodic Paralysis is oneof the most common ion channel disease, which is a kind ofautosomal dominant genetic disease. The main clinicallyfeatures of this disease is skeletal muscle repeatedly ache,flaccid weakness, serum potassium decreasing when one isattacked by the illness. The illness can be induced by thefollowing cases: nervous, cold, infection, glucose solutiontransfusion, body temperature lowing, metabolic alkalosis,anesthetization and steroid medications, and that may disappearafter potassium supplement. At present, the diagnosis andtreatment on this illness is mainly conducted based on the formof diseases and the serum potassium concentration of the patientduring the disease period. This experiment is to study itsguiding significance for clinical care by analyzing the genesequence of a familial periodic paralysis family member anddiscussing the mutation site.Materials and Methods: The experiment objects are six members of the same generation in the target family, three of them aremale, with hypokalemic periodic paralysis and the forms ofdiseases are basically the same, take their blood samples andextract the whole-genome DNA, through checking relevantliteratures, we can see that, about55%to70%of the hypokalemicperiodic paralysis patients are caused by skeletal musclevoltage dependent calcium channel CACNA1S gene mutation, about8%-10%of them are caused by voltage-gated sodium channel SCN4Agene mutation. In China, there are mainly the following genemutation types: R528G, R1239H, H916Q of CACNA1S, and R672H/C ofSCN4A, which are on exon11, exon30of CACNA1S and exon12ofSCN4A respectively. This Experiment is mainly to conductsequence analysis on the aforesaid three sections of sequence.Primers were designed according to the upstream and downstreamintron sequences of exon11,30of CACNA1S and exon12of SCN4A,and through PCR technology, obtain the target fragment andconduct expansion in vitro, at last, conduct sequencing for theobtained products. Through comparison among the gene sequencesof HOKPP patients in the family, the gene sequences of a normalfamily members and the gene sequences of a normal person, it canclearly indicate whether gene mutation or any gene mutation typepresents in HOKPP patients. Conclusions: The final results of this experiment indicate that,no CACNA1S gene and SCN4A gene mutation was found in the familymembers. The possible reasons are as follows:1) HOKPP patientsin the family are sporadic cases;2) This experiment has onlyconducted sequencing for exon30, exon11of gene CACNAS1andexon12of gene SCN4A, and the HOKPP patients in the family mayhave other gene type mutation;3) not all familial HOKPP patientshave gene mutation, at present, no mutant gene has been detectedfor about20%of familial hypokalaemic periodic paralysispatients.