The Gene Diagnosis And Genetic Analysis In A Hui Nationality Pedigree Of The Huntington Disease In Xinjiang

Objective: To make clinical analysis and gene diagnosis of Huntington disease (HD) in a Hui nationality family of xinjiang, provide them with genetic counseling, discuss the virulence gene and hereditary phenomena of Huntington disease in this famlily, Check whether the virulence gene and hereditary phenomena of Huntington disease is accordant with dom and fgn reports, and make preparation for the further research on gene diagnosis of HD. Methods: We examined roundly 1 patients and 7 families'members of this pedigree from Xinjiang, and detect the IT15 gene of this family and the control group by modified touchdown PCR, molecular cloning and gene sequencing technique. Results: The PropositusⅡ1 carried (CAG) 46,and the asymptomaticШ1 carried (CAG) 44. We acquired two kinds of allele when detect the nomal family members and the control group which respectively carried (CAG) 18 and (CAG) 19, while the latter is more common and it hold 72.22%. Conclusion: This pedigree is the first domestic HD reported in Hui nationality The sufferer and asymptomatic can be diagnosed definitively by the aforesaid method. The CAG trinucleotide repeat expansion of IT15 gene of nomal people and the sufferer in this Hui nationality family was accordant with the dom and fgn reports. This family had a hereditary phenomena that The CAG trinucleotide repeat expansion of IT15 gene diminished along with maternal side delivering.