CAJ | 학술논문

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EcoR Ⅰ/B1n Ⅰ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22～34 kb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.
목적대상해인군4q35위점D4Z4중복서렬진행연구,분석D4Z4적다태성.방법 191명정상상해인적기인조DNA경EcoR Ⅰ/B1n Ⅰ쌍매수해후,응용맥충장응효전영급Southern인적측정기염색체4q35위점적D4Z4편단장도,병대단적D4Z4편단용KpnⅠ매진행부분매절이계수기D4Z4천련중복서렬수.결과재191명정상상해인군중,유17인(점8.9%)휴대단적D4Z4편단,기장도재22～34 kb지간;기중16인휴대적단D4Z4편단위우4q35위점,1인휴대적단D4Z4편단위4q35→10q26.결론면견굉형기영양불량증적발병수여4q35위점D4Z4편단적천련중복서렬수감소유관,단상해인군중휴대4q35위점단적D4Z4편단개체적비례명현고우서방인군,제시기타인소가능야삼여면견굉형기영양불량증적발병.
Objective To investigate the D4Z4 repeats on chromosome 4q35 in normal individuals in Shanghai and analysis the polymorphism of the D4Z4 locus. Methods The length of D4Z4 repeats on chromosome 4q35 in 191 normal individuals in Shanghai was determined by pulsed-field gel electrophoresis and Southern blotting after double digestion with EcoRⅠ and BlnⅠ. The number of short D4Z4 repeats was counted after partial digestion with KpnⅠ. Results Among 191 normal individuals in Shanghai, seventeen showed the size of D4Z4 fragments ranged from 22 to 34 kb, i.e. 8.9% of individuals had fewer numbers of D4Z4 repeats. Of these 17 individuals, sixteen showed the short D4Z4 fragment on chromosome 4q35, and one low D4Z4 fragment was correlated to 4q35→10q26 translocation. Conclusion The frequency of individuals having fewer numbers of D4Z4 repeats on chromosome 4q35 in Shanghai population is higher than that in Caucasian population although the short D4Z4 fragment on chromosome 4q35 is associated with facioscapulohumeral muscular dystrophy. These findings suggest that other factors may also contribute to facioscapulohumeral muscular dystrophy.