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白俄罗斯某些地区儿童甲状腺肿瘤及血液样本中p53基因的多态性

Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus.

作者信息

Hillebrandt S, Streffer C, Demidchik E P, Biko J, Reiners C

机构信息

Institut für Medizinische Strahlenbiologie, Universitätsklinikum Essen, Germany.

出版信息

Mutat Res. 1997 Nov 28;381(2):201-7. doi: 10.1016/s0027-5107(97)00169-3.

Abstract

We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced cancer.

摘要

我们展示了从白俄罗斯儿童中获取的70个甲状腺肿瘤和40份血液样本中p53基因的变化情况。三个甲状腺肿瘤在外显子6(密码子213)处显示多态性,5个肿瘤在内含子6中显示多态性,位于外显子7 5'端上游37 bp处。只有一名患者在外显子7(密码子258)有突变,导致p53蛋白中的氨基酸替换。40份血液样本中的多态性分布如下:三名患者在外显子6有一个多态性,两人在内含子6有一个多态性。在来自白俄罗斯的30名健康儿童组中也发现了一个内含子6的多态性。在这些患者的肿瘤中发现的p53序列差异在其血液中也可见,这一事实表明它们是未受辐射暴露诱导的多态性。很难得出我们发现的多态性是否可能与辐射诱发癌症的易感性相关的结论。

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