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目的 在 18个缺失型迪谢内及贝克肌营养不良家系中 ,比较有效检测基因携带者的方法。方法 用多重聚合酶链反应方法扩增dystrophin基因 9个外显子 ,检测先证者有无外显子缺失 ;用聚合酶链反应方法扩增dystrophin基因内含子及 5′和 3′端的短串联重复顺序 ,对先证者及家族成员进行扩增片段长度多态性分析 ;用基因剂量分析方法判断女性亲属相关外显子的基因组靶序列的原始拷贝数。结果 在 18个肌营养不良家系中检测到外显子或重复顺序片段缺失 ,在 17个家系中得到女性亲属重复顺序片段 ,通过分析识别了 2组纯合、6组杂合和 11例半合状态的重复顺序片段。对11个缺失型家系的女性亲属进行基因剂量分析 ,确定了 9例女性为缺失基因携带者。结论 重复顺序多态性与基因剂量分析结合可有效地检测缺失型迪谢内和贝克肌营养不良的女性携带者。
OBJECTIVE: To compare the methods of detecting gene carriers more effectively in 18 missing Dickson and Becker muscular dystrophy families. Methods Nine exons of dystrophin gene were amplified by multiplex polymerase chain reaction (PCR), and the presence of exon deletion was detected. The introns of dystrophin gene and short of 5 ’and 3’ ends were amplified by polymerase chain reaction Tandem repeats, probands and their family members amplified fragment length polymorphism; genomic analysis of female relatives to determine the relative copy number of the original genome sequence of the target. Results The deletions of exons or repeat sequences were detected in 18 muscular dystrophy families. The repeats of female relatives in 17 pedigrees were obtained. Two groups of homozygous, 6 heterozygous and 11 hemizygous Repetitive sequence of states. Genetic analysis of female relatives of 11 missing pedigrees confirmed that 9 women were carriers of missing genes. Conclusion The combination of repeated sequence polymorphism and gene dosage analysis can effectively detect female carriers of Deutchene and Becker muscular dystrophy.