闽西地区1097例遗传咨询者的细胞遗传学分析

Cytogenetic Analysis of 1097 Genetic Counseling Patients in Western Fujian

目的:研究龙岩地区近4年遗传咨询患者中染色体的异常核型发生率,探讨染色体异常与疾病发生、发展的关系,以便优生优育,降低出生缺陷,提高人口素质。方法:采用常规外周血培养及染色体制备,行G显带,显微镜下核型分析。结果:1 097例遗传咨询患者中,异常染色体核型154例,异常检出率14.04%。154例异常核型中,以智力低下者检出率最高,为62.18%(74/119),其次为少弱无精症者和原(继)发闭经者,检出率分别为50.0%(7/14)和34.78%(8/23)。结论:染色体异常是导致智力低下、不良孕产史、原(继)发性闭经、少弱无精症等的重要原因之一,对其进行染色体检查是必不可少的。

Objective：Through the study of abnormal karyotype incidence rate of genetic counseling patients in the past four years, to explore the relationship between chromosomal abnormalities and disease＇s development, the aim is to eu- genics,reduce the risks of birth defects and improve the quality of population. Methods： Culturing the peripheral blood and preparing chromosome, by G-banding, then analysing karyotype under the microscope. Results： In the total of 1 097 cases we found 154 cases of abnormal karyotypes （abnormal detection rate： 14. 04%）. Among the 154 cases, the rele- vance ratio of mental retardation patients is the highest,is 62. 18% （74/119）, next is oligoasthenospermia, azoospermia and primary（ secondary） amenorrhea, respectively is 50. 0%（7/14）and 34.78%（8/23）. Conclusion：Chromosome abnor- malities are one of the important reasons of mental retardation,abnormal pregnancy, primary（secondary） amenorrhea and oligoasthenospermia, azoospermia etc. It is very necessary to give the chromosome examination.