叶锋 王建勋 524001湛江，广东医学院附属医院中心实验室 中华医学检验杂志 1998 9 21 5


    关键词：急性淋巴细胞白血病；突变；DNA重复顺序；p16基因 期刊 zhjyyxzz 0 *论著* fur -->


    

【摘要】 目的 探讨p16基因突变在白血病发生中的作用及基因突变的机制。方法 利用点突变检测仪、水平和垂直板电泳对p16基因的外显子1、外显子2的PCR扩增产物作缺失和点突变分析。结果 在白血病35例临床标本中有22例发生缺失突变，6例发生点突变，突变率约80%。在22例缺失突变病例中，有10例为不完全缺失突变即有低于外显子509bp的扩增产物。结论 p16基因含有“GC”DNA重复顺序，易发生DNA重组及易位和重排。在白血病发生中起重要作用

    Mutation analysis of p16 gene in acute lymphoblastic leukemias Ye Feng, Wang Jianxun. Department of Centre Laboratary, FirstAffiliated Hospital, Guangdong Medical College, Zhangjiang 524001

    【 Abstract】 Objective To analyze the role of p16 gene mutation in acutelymphoblastic leukemia genesis and mechanism of p16 gene mutation. Method The exon2 and exonl of p16 genewas amplified by polymerase chain reaction respectively. The products were analyzed byCDGE (constant denatured gel electrophoresis in Dcode^TM apparatus) and 1.8%agarose gel separately.Results We had 22 deletion mutational cases and 6 point mutationsfrom 35 clinical specimens. The mutation rate was about 80% and 10 of the 22 deletionmutations were uncomplete deletion mutations, which had two amplified DNA bands less 509bp (ladder bands).Conclusions Mutation of p16 gene has played an important role in acutelymphoblastic leukemia genesis. Becaucse its exons own "CG" DNA repetitivesequence, p16 gene is apt to lose part of the sequence leading to mutation. So themechanism of the mutation is that recombination and rearragement of the "CG"repetitive sequence lead to uncomplete DNA deletion. It is why the rate of deletionmutation is higher than that of point mutation.

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