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目的分析616名受检者染色体核型,探讨染色体异常类型及发生风险。方法回顾性分析2014年3月17日-2015年6月8日在北京某医院产前诊断中心进行细胞遗传学染色体核型诊断的616名自愿受检者资料及染色体核型检测结果,统计各类核型染色体异常率与构成比,并对不同性别染色体异常的检出率进行比较。结果在616份外周血标本中染色体异常36人,异常率为5.84%;染色体多态性变异79人(12.82%)。在染色体异常核型中,常染色体异常27人(4.38%),性染色体异常9人(1.46%);染色体数目异常者15人,染色体结构异常者21人,发生率分别为2.44%、3.41%;平衡易位和罗伯逊易位发生率分别为1.79%(11/616)、0.49%(3/616),有8种罕见常染色体平衡易位的核型。不同性别之间染色体异常率差异无统计学意义(χ~2=0.010,P=0.969),不同性别之间染色体正常多态发生率差异有统计学意义(χ2=7.211,P=0.007),男性组正常多态发生率是女性组的1.8倍。结论我国一般人群存在染色体异常风险,且不同性别之间染色体正常多态发生率差异有统计学意义。
Objective To analyze the chromosomal karyotypes of 616 subjects to explore the types of chromosomal abnormalities and the risk of them. Methods A retrospective analysis was conducted on the data of 616 volunteers and their karyotypes detected by cytogenetics at the Prenatal Diagnostic Center of a hospital in Beijing from March 17, 2014 to June 8, 2015. Statistics Karyotypes, chromosomal abnormalities and composition ratio, and the detection rate of different sex chromosome abnormalities were compared. Results There were 36 chromosomal abnormalities in 616 peripheral blood samples, with an abnormal rate of 5.84% and 79 chromosomal aberrations (12.82%). There were 27 autosomal abnormalities (4.38%) and 9 abnormal sex chromosomes (1.46%) in chromosomal aberration karyotype. There were 15 chromosomal abnormalities and 21 chromosomal abnormalities with rates of 2.44%, 3.41% . The incidences of balanced translocation and Robertsonian translocation were 1.79% (11/616) and 0.49% (3/616), respectively. There were 8 karyotypes of rare and autosomal translocations. There was no significant difference in chromosomal abnormalities between different genders (χ ~ 2 = 0.010, P = 0.969). The incidence of chromosomal abnormalities among different genders was significantly different (χ2 = 7.211, P = 0.007) The incidence of normal polymorphism was 1.8 times that of the female group. Conclusion There is a risk of chromosomal abnormalities in the general population in our country, and there is significant difference in the incidence of normal chromosome polymorphism among different sexes.