短串联重复序列（short tandem repeats,STR）作为人类遗传学中一类重要的遗传标记,因其多态性高,个体识别能力强,扩增片段长度短,广泛地应用于法医学亲子鉴定、个体识别及遗传病连锁分析等方面[1]。STR核心序列的变异可能导致对结果分...短串联重复序列（short tandem repeats,STR）作为人类遗传学中一类重要的遗传标记,因其多态性高,个体识别能力强,扩增片段长度短,广泛地应用于法医学亲子鉴定、个体识别及遗传病连锁分析等方面[1]。STR核心序列的变异可能导致对结果分析的偏差甚至误判,因此引起法医分子生物学和遗传学工作者的重视[2],STR基因座在遗传过程中发生变异的机会相对较低,其突变率约在0.展开更多
目的:了解浙江畲族群体4个X染色体短串联重复序列(short tandem repeat,X-STR)基因座DXS7132、DXS6804、DXS6799、DXS9898的等位基因及基因型频率分布。方法:从无血缘关系的260名浙江畲族个体的抗凝血中提取DNA,进行PCR扩增,聚丙烯酰胺...目的:了解浙江畲族群体4个X染色体短串联重复序列(short tandem repeat,X-STR)基因座DXS7132、DXS6804、DXS6799、DXS9898的等位基因及基因型频率分布。方法:从无血缘关系的260名浙江畲族个体的抗凝血中提取DNA,进行PCR扩增,聚丙烯酰胺凝胶垂直电泳(PAGE)并银染。结果:4个基因座检出6、6、6、7个等位基因,4个基因座基因型频率分布(女性个体)均符合Hardy-Weignberg平衡(P>0.05);观测杂合度大于0.4759,多态信息含量均大于0.4663,女性个体识别力均大于0.7096,男性个体识别力均大于0.4147。结论:4个基因座均具有较高的遗传多态性,是较理想的遗传标记系统,为浙江畲族人群法医个体识别、亲子鉴定及遗传学研究提供依据。展开更多
Background: Most patients with pure nonprogressive congenital cerebellar atax ia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogress...Background: Most patients with pure nonprogressive congenital cerebellar atax ia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA). Methods: The authors ascertained and clinically characterized a four-generati on pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1,2,3, 4,5, 6,7,8, 10, 12, 17, IOSCA, and DR PLA), a genome-wide linkage study was performed. Results: Examination of the f amily showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyra midal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1 620 (approximately 8 cM). Conclusion: Autosomal dominant congenital nonprogressi ve cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA 15 locus on chromosome 3pter.展开更多
文摘短串联重复序列（short tandem repeats,STR）作为人类遗传学中一类重要的遗传标记,因其多态性高,个体识别能力强,扩增片段长度短,广泛地应用于法医学亲子鉴定、个体识别及遗传病连锁分析等方面[1]。STR核心序列的变异可能导致对结果分析的偏差甚至误判,因此引起法医分子生物学和遗传学工作者的重视[2],STR基因座在遗传过程中发生变异的机会相对较低,其突变率约在0.
文摘目的:了解浙江畲族群体4个X染色体短串联重复序列(short tandem repeat,X-STR)基因座DXS7132、DXS6804、DXS6799、DXS9898的等位基因及基因型频率分布。方法:从无血缘关系的260名浙江畲族个体的抗凝血中提取DNA,进行PCR扩增,聚丙烯酰胺凝胶垂直电泳(PAGE)并银染。结果:4个基因座检出6、6、6、7个等位基因,4个基因座基因型频率分布(女性个体)均符合Hardy-Weignberg平衡(P>0.05);观测杂合度大于0.4759,多态信息含量均大于0.4663,女性个体识别力均大于0.7096,男性个体识别力均大于0.4147。结论:4个基因座均具有较高的遗传多态性,是较理想的遗传标记系统,为浙江畲族人群法医个体识别、亲子鉴定及遗传学研究提供依据。
文摘Background: Most patients with pure nonprogressive congenital cerebellar atax ia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA). Methods: The authors ascertained and clinically characterized a four-generati on pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1,2,3, 4,5, 6,7,8, 10, 12, 17, IOSCA, and DR PLA), a genome-wide linkage study was performed. Results: Examination of the f amily showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyra midal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1 620 (approximately 8 cM). Conclusion: Autosomal dominant congenital nonprogressi ve cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA 15 locus on chromosome 3pter.
