ABSTRACT
The two common polymorphisms (385A > G: M129V and 655G > A: E219 K) in the human prion gene (PRNP) play important roles in the pathogenesis of Creutzfeldt-Jakob diseases. We screened a total of 626 individuals, who represent three ethnic populations of China, Han, Hui, and Uyghur, for the two polymorphisms. The frequencies of M/M homozygote at residue 129 in these three groups differ significantly. The Han has a much higher frequency (98%) than Hui (85%) and Uyghur (60%). On the other hand, the frequencies of the E/E at residue 219 are higher in Uyghur (98%) and Hui (96%) than in Han (90%). We also investigated two other less common variants of PRNP, a silent substitution at residue 117 (351A > G: A117A), and one octapeptide-repeat deletion (1-OPRD) in the octapeptide-coding region. We found three Uyghur individuals with silent substitution at residue 117. Four Hui (2.0%) and one Han (0.5%) donors were found to be heterozygous for 1-OPRD. A novel three extra-repeat (72 bp) insertion within the octapeptide-coding region was identified in one healthy 11-years-old Hui. Identical mutation was also found in her mother but not her father.
Subject(s)
Amyloid/genetics , Asian People/genetics , Mutagenesis, Insertional/genetics , Polymorphism, Genetic , Protein Precursors/genetics , China/ethnology , Creutzfeldt-Jakob Syndrome/ethnology , Creutzfeldt-Jakob Syndrome/genetics , Female , Gene Frequency , Genotype , Haplotypes , Humans , Male , Mutation/genetics , Population/genetics , Prion Proteins , PrionsABSTRACT
Hepatocyte growth factor (HGF) is a multifunctional growth factor which is a heterodimeric glycoprotein molecule. There are three truncated HGF variants: NK1, NK2, NK4. The structure of the promoter of HGF is very complicated, and the expression of HGF is regulated by various factors and regulatory elements. Because of the importance of HGF to human body, the genetic engineering expression and gene therapy investigation of HGF are being done.
