论文部分内容阅读
目的研究一脊髓小脑性共济失调大家系的基因分型。方法收集该脊髓小脑性共济失调大家系中的13名患者的血液标本,结合该家系的临床表现和我国该类疾病的发病率,采用聚合酶链反应对SCA1、SCA2和SCA3/MJD三个基因的三核苷酸重复片段进行扩增,并通过琼脂糖凝胶电泳和PCR产物测序的方法确定所有正常和异常扩增等位基因内三核苷酸重复次数。结果 SCA1和SCA2基因内三核苷酸重复次数在正常范围内,SCA3/MJD的两个等位基因中一个等位基因三核苷酸重复次数在正常范围内,另一个等位基因三核苷酸重复次数在异常范围内。结论该家系经基因诊断确诊为SCA3/MJD型。
Objective To study the genotyping of a pedigree of spinocerebellar ataxia. Methods The blood samples of 13 patients in this family of spinocerebellar ataxia were collected. Combined with the clinical manifestations of the pedigree and the incidence of such diseases in our country, we used polymerase chain reaction to detect three SCA1, SCA2 and SCA3 / MJD The trinucleotide repeats of the gene were amplified and the number of trinucleotide repeats in all normal and abnormal amplification alleles was determined by agarose gel electrophoresis and PCR product sequencing. Results The number of trinucleotide repeats in the SCA1 and SCA2 genes was within the normal range. The number of trinucleotide repeats in one of the two alleles of SCA3 / MJD was within the normal range, and the other allele, The number of acid repeats is within the anomaly range. Conclusion The pedigree was diagnosed as SCA3 / MJD by genetic diagnosis.