CTT triplex系统各基因座位等位基因在葡萄胎基因组中的分布及其意义

我们对采用PCR和聚丙烯酰胺凝胶电泳鉴别出的37例DNA完全来自父方的遗传学完全性葡萄胎(g-CHM)进行基因组中CTTtriplex系统各基因座位(CSF1PO、TPOX和TH01)等位基因分布的分析,并初步研究了这些等位基因分布与临床预后的关系。结果显示,在37例g-CHM中,CSF1PO座位中3个等位基因(11,12和14)和TPOX座位中的1个等位基因(11)的出现率与它们在北京地区人群中的基因频率差异显著;g-CHM中CSF1PO、TPOX和TH01基因座位杂合度显著低于北京地区人群的杂合度(P值均远小于0.01);在23例良性g-CHM和10例侵袭性g-CHM中:CSF1PO座位的等位基因10、11在良性中的出现率高于在侵袭性g-CHM中(P=0.026148),等位基因12在良性中的出现率低于在侵袭性g-CHM中(P=0.023879);TPOX座位的等位基因8在良性中的出现率高于在侵袭性g-CHM中(P=0.004322),而等位基因11在良性中的出现率低于其在侵袭性g-CHM中(P=0.008671)。上述结果提示,葡萄胎基因组中存在某些等位基因分布与在人群中的分布不同,而且葡萄胎是否具有侵袭性也和某些等位基因的出现率过高或过低有相关性,这些与侵袭性有关的等位基因可能成为预测葡萄胎是否具有侵袭性的标志物。

The distribution and the significance of alleles of CTT triplex loci in hydatidiform mole genome

Objcetive and Methods:The short tandem repeat's allelic distribution of the CTT triplex loci(CSF1PO,TPOX and TH01)in the genomes of 37 cases of genetically complete hyd ratidiform moles(g-CHM)were analyzed by PCR and polyacrylamide gelelectrophoresis.And further studied of relationship between the distribution of these alleles and clinical prognosis of the patients were performed.Results:Showed there were significant difierences in the frequency of alleles11,12 and 14 of locus CSF1PO and allele 11 of locus TPOX between these 37 cases of g-CHMs and Beijing population.The heterozygosty of loci CSF1PO,TPOX and TH01 was significantly Iower in g-CHMs than in Population(P value far Iess than 0.01).In 23 cases of benign g-CHMs and 10 cases of invasive g-CHMs,the frequency of alleles 10 and 11 of locus CSF1PO was higher in benign g-CHMs than invasive ones(P=0.026148),and the frequency of allele 12 was lower in benign g-CHMs than invasive ones(P=0.023879);the frequency of allele 8 of locus TPOX was higher than in benign than invasive g-CHMs(P=0.004322),while that of allele 11 was lower in benign than invasive g-CHMs(P=0.008671).Conclusion:The results suggested there are different distribution of some alleles in hydratidiform mole genomes than in the population.and that the invasiveness of hydratidiform mole is correlated to the frequency of certain alleles.The invasiveness-related alleles may be the markers for predicting whether a hydratidiform mole is invasive.