泰安地区遗传咨询者外周血淋巴细胞异常染色体核型与相关疾病的关系研究

Relationships between abnormal chromosome karyotype from Peripheral Blood Lymphocytes of genetic counseling people from Taian districts and related diseases

目的探讨泰安地区遗传咨询者外周血染色体核型与相关疾病的关系。方法采用外周血淋巴细胞培养、染色体G显带方法进行核型分析,并回顾分析了1996年1月～2010年10月期间来我院进行遗传咨询人员的外周血染色体核型分布情况。结果 2211例遗传咨询者中检出异常染色体核型220例,异常检出率是9.95%,显著高于过去的8.7%(P<0.05)。220例染色体异常患者中,常染色体异常占60.45%,性染色体异常37.73%,性别不符占1.82%。染色体异常患者中,智低畸形儿所占比例最高,其次是无精症患者、自然流产者以及第二性征发育不良者,分别是41.37%,19.55%、12.73%和9.55%。结论染色体异常是导致发育异常、生育异常等疾病的重要原因之一。

Objective：To investigate the relationship between abnormal chromosome karyotype from peripheral blood lymphocytes of genetic counseling people and related diseases.Methods：Routine culture for the peripheral blood lymphocytes was made and G-dominance band was analyzed.Meanwhile the distribution of chromosome karyotype from peripheral blood lymphocytes of genetic counseling people was analyzed retrospectively.Results：Among 2211cases of genetic counseling people,totally abnormal chromosome karyotype were 220 cases,including autosomal abnormalities（60.45%）,sex chromosome abnormalities（37.73%） and pseudohermaphroditism（1.82%）.Among genetic counseling people of abnormal chromosome,mental retardation and malformed children,azoospermia,spontaneous abortion and secondary sexual characteristics dysplasia were the major cases,their proportions were 41.37%,19.55%,12.73% and 9.55%Respectively.The total detection rates of abnormal chromosome was 9.95%,significantly higher than 8.7% in the past（P0.05）.Conclusions：The chromosome karyotype abnormality is one of the most important reasons of many diseases,such as dysplasia,reproductive abnormalities and so on.It is necessary for people which are high-risk group to take their chromosome examinaed.