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目的对上海人群4q35位点D4Z4重复序列进行研究,分析D4Z4的多态性。方法191名正常上海人的基因组DNA经EcoRⅠ/B1nⅠ双酶水解后,应用脉冲场凝胶电泳及Southern印迹测定其染色体4q35位点的D4Z4片段长度,并对短的D4Z4片段用KpnⅠ酶进行部分酶切以计数其D4Z4串联重复序列数。结果在191名正常上海人群中,有17人(占8.9%)携带短的D4Z4片段,其长度在22～34kb之间;其中16人携带的短D4Z4片段位于4q35位点,1人携带的短D4Z4片段为4q35→10q26。结论面肩肱型肌营养不良症的发病虽与4q35位点D4Z4片段的串联重复序列数减少有关,但上海人群中携带4q35位点短的D4Z4片段个体的比例明显高于西方人群,提示其他因素可能也参与面肩肱型肌营养不良症的发病。
Objective To study the D4Z4 repeat at 4q35 locus in Shanghai and analyze the polymorphism of D4Z4. Methods The genomic DNA of 191 normal Shanghai individuals was digested with EcoRⅠ / B1nⅠ. The length of D4Z4 fragment at chromosome 4q35 was determined by pulsed-field gel electrophoresis and Southern blotting. The short D4Z4 fragment was partially digested by KpnⅠ Cut to count the number of D4Z4 tandem repeats. RESULTS: Of the 191 normal Shanghai population, 17 (8.9%) had short D4Z4 fragments ranging in length from 22 to 34 kb. Of these, 16 were short D4Z4 fragments at 4q35 and 1 were short The D4Z4 fragment is 4q35 → 10q26. Conclusions Although the incidence of surface-shoulder-muscular dystrophy is related to the reduction of the tandem repeat number of D4Z4 fragment at 4q35, the proportion of D4Z4 fragment carrying 4q35 locus in Shanghai population is significantly higher than that in Western populations, suggesting that other factors May also be involved in the incidence of facial and shoulder muscular dystrophy.