摘要
目的 了解 Duchenne/Becher型肌营养不良症 (Duchenne/Becker muscular dystrophy,DMD/BMD)患者中央缺失热区 44～ 5 1内含子断裂点分布情况 ,并结合内含子长度 ,在排除了内含子长度的影响因素后对中央缺失热区各内含子的不稳定性进行分析。方法 PCR检测 5 9例 DMD/BMD患者dystrophin蛋白基因 44～ 5 2号 9个外显子 ,分析 44～ 5 1号内含子断裂点的分布 ,并计算各内含子的长度预测值及实际断裂点数与长度预测值的比值。结果 44号内含子断裂点最多 ,占整个中央缺失热区断裂点总数的 30 .8%。 5 0号内含子次之 ,占 2 3.1%。5 1号、45号、48号内含子内的断裂点分别占 17.9%、10 .3%、10 .3%。 44号内含子内的实际断裂点数小于长度预测值 ,实际断裂点数 /长度预测值之比值为 0 .7倍。 48号、5 0号、5 1号、45号内含子内的实际断裂点数大于长度预测值 ,分别是长度预测值的 2 .7、2 .0、1.9、1.1倍。结论 44号内含子的稳定性要高于整个中央缺失热区分子结构的稳定性。48号、5 0号、5 1号内含子是中央缺失热区较不稳定的几个内含子 ,5 0号内含子的不稳定性存在种族差异。
Objective: To understand the distributional characteristics of dystrophin gene deletion breakpoints in 'central deletion hot spot' and analyze the instability of introns 44-51 after excluding the effect of intron's length. Methods: Fifty-nine Duchenne/Becker muscular dystrophy (DMD/BMD) patients were detected by polymerase chain reactions with the primers to amplify exons 44-52 of dystrophin gene. The amount of actual breakpoints, expected breakpoints according to its length, and the ratios of actual breakpoints to expected values(A/E) for introns 44-51 were calculated respectively. Results: In 'central deletion hot spot', about 30.8% of breakpoints fell in intron 44, about 23.1%, 17.9%, 10.3%, 10.3% of breakpoints fell in introns 50,51, 45, 48, respectively. But the amount of actual breakpoints of intron 44 was less than that of expected breakpoints according to its length, the ratio of A/E was 0.7. The amount of actual breakpoints of introns 48, 50, 51, 45 were more than that of length expected value. The ratios of A/E were 2.7, 2.0, 1.9, 1.1, respectively. Conclusion: Intron 44 is more stable than the whole molecular region of 'central deletion hot spot'. Introns 48, 50 and 51 are comparatively instable in 'central deletion hot spot'.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2001年第3期191-194,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金!(39870 80 4 )
广东省自然科学基金!(970 0 61 )
卫生部临床重点项目基金!(970 4 0 2 2 9)
CMB基金!(98-
