一例无症状8号三体的遗传学构成初探

The exploratory study on the genetic constitution of a case of trisomy 8 without obvious clinical symptom

目的针对一例无症状的8号染色体三体的患者,研究其8号染色体的来源机制和作用机制。方法利用患者外周血进行淋巴细胞培养及G显带技术分析,以确定淋巴细胞核型;利用患者外周血总DNA进行SNP微阵列技术分析,以确定各类有核细胞的分子核型。结果患者外周血淋巴细胞核型为47,XX,+8;患者外周血各种有核细胞总DNA基因型为47,XX,+8。结论确诊患者外周血有核细胞的核型均为47,XX,+8,并且多出来的那条染色体可能由于第二次减数分裂不分离而导致的,尚不能明确该患者没有明显临床症状的机制。

Objective To explore the mechanisms of the patient with trisomy 8 in peripheral blood who had no obvious clinical symptom. Methods The lymphocyte karyotype was determined by lymphocyte culture and G-banding technique with patient＇s peripheral blood. Total DNA from patient＇s peripheral blood were analysed by SNP microarray to determine the molecular karyotype of all kinds of nucleated cells. Results The lymphocyte karyotype of patient＇s peripheral blood was 47, XX, ＋8. Total DNA genotype of nucleated cells from patient＇s peripheral blood was 47, XX, ＋8. Conclusion The karyotype of nucleated cells from patient＇s peripheral blood was 47, XX, ＋8, and the extra chromosome existence may be due to the chromosome without separation in the second meiotic division. It is unclear that the mechanism of patient without obvious clinical symptom.