摘要
目的检测７３对食管癌标本中脆性组氨酸三联体（ｆｒａｇｉｌｅｈｉｓｔｉｄｉｎｅｔｒｉａｄｇｅｎｅ，ＦＨＩＴ）基因相关的多态性位点的杂合性丢失。方法以ＲＴＰＣＲ和ＤＮＡ序列分析，检测１４例食管癌标本及２个食管癌细胞系中ＦＨＩＴ基因５′ＵＴＲ及编码区的缺失情况。结果３ｐ１４．２的Ｄ３１４８０、Ｄ３Ｓ１４８１、Ｄ３Ｓ１２３４位点有较高频率的杂合性丢失。在１４例标本中，有９例发现ＦＨＩＴｃＤＮＡ的全部或部分丢失，其中７例存在外显子１～４的丢失，５例有外显子５～９（编码区）的丢失。在食管癌细胞系ＥＣ８７３３中发现了ＦＨＩＴ全基因的丢失。结论ＦＨＩＴ基因的改变在食管癌的发生中是一种常见的遗传现象，但其是否就是食管癌的易感基因还需进一步探讨。
Objective To identify loss of heterozygosity(LOH) and homozygous deletion on loci of fragile histidine triad gene(FHIT). Methods Gene regions have been detected in 73 pairs of esophageal cancer samples using microsatellite DNA markers. Deletions of FHIT cDNA on 14 fresh esophageal cancer(EC) samples and 2 EC cell lines were screened by RT PCR and DNA sequencing. Results High frequency of LOH was detected on loci D3S1480, D3S1481, D3S1234. Of 14 esophageal cancer samples 9(64.3%) had deletions of the FHIT gene, 7 of them were deletions in exon 1 4, and 5 of them were deletions in exon 5 9, the coding region. The whole FHIT gene was found deleted in an EC cell line, EC8733. Conclusion It is suggested that the FHIT gene may play an important role in the genesis of EC. However, further study is needed to ascertain whether FHIT gene is indeed an EC susceptibility gene.
出处
《中华肿瘤杂志》
CAS
CSCD
北大核心
1998年第4期258-260,共3页
Chinese Journal of Oncology
关键词
食管肿瘤
遗传学
基因缺失
序列分析
DNA
Esophageal neoplasms/genetics Gene deletion Sequence analysis, DNA FHIT gene Susceptibility
