摘要
GSS病是致死型常染色体显性遗传病,Prp基因缺陷是该病发生的可能病因。PrpcDNA的多态性很低,在连锁分析时意义不大。本文应用Southern印迹杂交和两点连锁分析从Prp基因的8个亚克隆中筛选出PRB 6.2克隆,它在受检群体中有较高的多态性。D20S16探针与Prp基因紧密连锁(=0),也具有高频率多态,这些探针将为检出和诊断GSS病提供有用的分子标记。
Gerstmann-Straeussler syndrome is a late-onset, progressive, lethal and autosomal dominant disease caused by prions. The only known macromolecules within prions are prion proteins (Prp). Prp cDNA presents little value of polymorphism in the diagnosis of G.S.S. We screened 8 subclones of Prp gene and Southern blot revealed a high polymorphism of subclone PRB6.2 in tested population. Its PIC was 0.54. By two-point linkage analysis, the high polymorphic probe D20S16 was closely linked with Prp gene (θ=0). Therefore, clone PRB6.2 and D20S16 are the candidate probes for the screening and detecting of G.S.S.
出处
《遗传与疾病》
CSCD
北大核心
1990年第2期70-72,127+131,共3页
