摘要
研究中国人群遗传性共济失调症中脊髓小脑共济失调1亚型（SCA1）的基因分型与诊断。在D65274与D6S89之间设计一对引物扩增CAG三核苷酸重复序列。结果：在收集的来自8个家系的9例遗传性共济失调患者中发现1个家系中的2例患者在此SCA1基因位点表现为杂合子，其中的一个等位基因均存在扩展现象，表现为SCA1亚型；而其他患者及健康人表现为纯合子。结论：中国人群SCA1亚型在常染色体显性遗传性共济失调症中所占比例为14％，SCA1亚型的遗传结构与白种人相似。
To study genotyping assay of spinocerebellar ataxia type 1 (SCA1) in Chinese POpulation and its diagnosis.METHODS Polymerase chain reaction technique was used to amplify CAG trinucleotide repeat sequence within SCA1 locus, which extends from genetic marker D65274 to D6589. PCR DNA fragments were compared between hereditary ataxias patients and health controls.RESULTS In 9 hereditary ataxias patients who came from 8 kindreds, it was found that 2 patients who came from one kindred were hereozygotes with a expanded allele and that other patients and health individuals were homozyous in SCA1 locus.CONCLUSIONS SCAl rate is 14 % in autosomal dominant cerebellar ataxias and its genetic strcture is similiar to SCAl in caucasian population.
出处
《上海医科大学学报》
CSCD
1997年第3期211-213,共3页
Journal of Fudan University(Medical Science)
基金
卫生部资助!941177
