摘要
目的利用基因组拷贝数变异测序(CNV-seq)技术对一例胎儿羊水细胞核型疑似18号环状染色体[r(18)]的结果进一步分析及验证。方法胎儿羊水细胞培养后进行G显带,未被培养的羊水细胞直接进行CNV-seq检测,从而验证核型分析的结果。结果胎儿羊水细胞染色体核型分析结果为46,XN,?r(18)[48]/45,XY,-18[9]。CNV-seq检测结果为:seq[hg19]del(18)(q21.31q23)chr18:g.55860000_78020000del,seq[hg19]del(18)(p11.32)chr18:g.140000_1160000del。显示胎儿18号染色体q21.31-q23处缺失22.16 Mb区域,同时,18号染色体p11.32处缺失1.02 Mb区域。结论CNV-Seq技术可以定位常规G显带无法定位的断裂点以及判断缺失区域的大小,进一步分析和验证了r(18)的存在,为产前诊断和遗传咨询提供帮助。
Objective Genome copy number variation sequencing(CNV-seq)was used to further analyze and verify the results of a case of fetal amniotic fluid cell karyotype suspected of ring chromosome 18.Methods The fetal amniotic fluid cells were cultured for G-banding,and the uncultured amniotic fluid cells were directly tested by CNV-seq to verify the results of karyotype analysis.Results The karyotype analysis result of fetal amniotic fluid cells was 46,XN,?r(18)[48]/45,XY,-18[9].The CNV-seq test results were:seq[hg19]del(18)(q21.31q23)chr18:g.55860000_78020000del,seq[hg19]del(18)(p11.32)chr18:g.140000_1160000del.A 22.16 Mb region was deleted from fetal chromosome 18 at q21.31-q23,and a 1.02 Mb region was deleted at p11.32 on chromosome 18.Conclusion CNV-seq technology can locate breakpoints that cannot be located by conventional G-banding and determine the size of the deletion region,further analyze and verify the existence of circular chromosome 18,and provide help for prenatal diagnosis and genetic counseling.
作者
张素华
傅丹
ZHANG Suhua;FU Dan(Department of Prenatal Diagnosis,Subei People’s Hospital of Jiangsu Province,Yangzhou,Jiangsu 225001,China)
出处
《中国优生与遗传杂志》
2023年第2期387-391,共5页
Chinese Journal of Birth Health & Heredity
基金
江苏省妇幼健康科研项目(F201944)。
关键词
环状染色体
染色体缺失
下一代测序
拷贝数变异
产前诊断
ring chromosome
chromosomal deletion
next generation sequencing
copy number variation
prenatal diagnosis
