Genome-wide Linkage Scan For Two Pure Paroxysmal Kinesigenic Dyskinesia Pedigrees

Objective:Paroxyamal kinesigenic dyskinesia(PKD)is a rare neurologic inherited disease that has been reported by Kertesz in 1967.It occurs in both sporadic and familial forms.The inherited forms of PKD include autosomal dominant(AD)and antosomal recessive(AR).By genetic linkage analysis,there are two loci for PKD have been mapped to 16 chromosome:EKD 1(16p11.2-q12.1),EKD2(16q13-q22.1).However, no gene responsible for PKD has been identified so far,We collected two pure PKD pedigrees that from Chinese mainland,By linkage analysis,we excluded the linkage to the two known gene loci of PKD,providing evidence for a novel PKD locus.genetic analysis were performed to localize the new locus of them.Method:Two large pure PKD pedigrees including 52 members were followed-up,clinical information and Blood have been collected,we performed genome-wide scan and linkage analysis in the two pedigrees.Result:A genome-wide scan analysis identified linkage with chromosome 3.a maximum two-point LOD score of 2.78(recombination fraction[0]= 0;penetrance[p]=0.90)and the maximum NPL score of 3.21(P=0.03)were obtained at marker D3S1580.This result showed a novel locus on chromosome 3q27-q29.Conclusion:Identification and characterization of this new locus of PKD which may associate with the phenomenon of its "pure" characteristics will provide new insight into the pathophysiology of this disease.