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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 detect the loss of heterozygosity in 73 polymorphic loci associated with the fragile histidine triadgene (FHIT) gene in esophageal cancer specimens. Methods RT-PCR and DNA sequence analysis were used to detect the deletion of FHIT gene 5′UTR and coding region in 14 specimens of esophageal cancer and 2 esophageal cancer cell lines. Results Loss of heterozygosity at higher frequencies was found in the D31480, D3S1481, and D3S1234 loci of 3p14.2. Of the 14 specimens, 9 were found to have lost all or part of the FHIT cDNA, 7 of which had the loss of exons 1 to 4, and 5 had the loss of exons 5 to 9 (coding region). Loss of the entire FHIT gene was found in the esophageal cancer cell line EC8733. Conclusion The change of FHIT gene is a common genetic phenomenon in the occurrence of esophageal cancer. However, whether it is a susceptibility gene for esophageal cancer needs further investigation.