亨廷顿蛋白相互作用蛋白1相互作用因子（huntingtin-interacting protein 1 protein interactor，HIPPI）也称为雌激素相关受体β样蛋白1（estrogen-related receptor beta-like protein 1，ESRRBLl）或者鞭毛内转运蛋白57同系物（intraflagellar transport 57 homolog，IFT57）。2002年，Gervais等在研究亨廷顿病（Huntington disease，HD）的发病机制时，发现了一种新的与享廷顿蛋白相互作用蛋白1（hunting-tin-interacting protein 1，HIP-1）相互作用的蛋白，进而克隆了该蛋白的基因，并命名这个新的蛋白为HIPPI。
To investigate the association of five SNPs(rs823083,rs708723,rs4951261,rs823076 and rs16856110) at the PARK16 locus with Parkinson's disease(PD),and to potentiate its forensic application.The genomic DNAs of 215 PD patients and 212 matched controls from the northern Han Chinese population were amplified in two independent PCR systems and subsequently genotyped by digestion with the three endonucleases(Hinf Ⅰ,Nco Ⅰ and Msp Ⅰ).The genetic parameters and association studies were carried out with SPSS 13.0,Haploview version 4.2 and PLINK 1.07 softwares.We detected accurately all genotypes in the five SNPs with multiplex PCR-RFLP and mismatched multiplex PCR-RFLP techniques.The genotypes of four SNPs,except for rs823083,were in Hardy-Weinberg equilibrium.The four SNPs,rs16856110,rs4951261,rs708723 and rs823076,which were in linkage equilibrium,should not be associated with PD(P-values ranging from 0.077 to 0.544).The SNPs investigated at the PARK16 locus were not found to be involved in PD-associated blocks in the northern Han Chinese population.The allele distributions of rs708723,rs4951261,rs823076 and rs16856110 in the northern Han Chinese population can be highly polymorphic,which can be applied to genetic analysis and forensic practices.
CUI Hong-gangTIAN Xiao-feiLUO Xiao-guangLI Feng-ruiZHU Lan-huiZHOU Yi-shuREN YanPANG Hao
