摘要
目的分析一个在Y染色体AZFa区存在sY86缺失,有正常生育能力的家系。方法经知情同意,对患者进行精液常规分析,精子形态分析,外周血染色体核型分析,对患者及其父亲进行Y染色体微缺失检测,并重新设计引物,用电泳法对扩展位点sY82、sY83、sY1064、sY86、sY84、sY1065、sY1182和sY88进行检测分析,采用AffymtrixCytoScan 750K SNP-Array芯片,来验证患者及其父亲Y染色体微缺失的缺失模式和缺失断点。结果患者精液常规分析及精子形态正常,Y染色体AZFa区sY86缺失,拓展分析显示sY83、sY1064、sY86缺失,SNP-Array芯片检测结果显示在Yq11.21(14416038-14622345)区段存在206.3kb的缺失,该片段内含sY83、sY1064和sY86位点,但是不含有OMIM基因,患者父亲的缺失位点与缺失片段与患者一致。结论 Y染色体AZFa区sY83、sY1064、sY86位点的缺失,对应区段Yq11.21(14416038-14622345)的缺失是良性的,当发现AZF区域存在部分缺失时,需要进行额外的扩展分析和基因检测来验证和确保数据的准确性,以便为睾丸表型提供更准确的预测。
Objective To analysis of a family with sY86 deletion in AZFa region and normal fertility. Methods With informed consent, routine sperm analysis, sperm morphology analysis and chromosome karyotype analysis for patient, the patient and his father were tested for Y chromosome microdeletion, and the primers were redesigned, and the extension sites sY82, sY83, sY1064, sY86, sY84, sY1065, sY1182 and sY88 were detected and analyzed by electrophoresis. AffymtrixCytoScan 750 K SNP-Array chip was used to verify the deletion patterns and deletion breakpoints of Y chromosome microdeletions in patient and his father. Results Routine semen analysis and sperm morphology were normal, AZFa sY86 loss, expand analysis showed sY83, sY1064, sY86 missing, SNP-Array chip detection showed 206.3 kb deletion in Yq11.21(14416038-14622345), which contained sY83, sY1064 and sY86, but did not contain OMIM gene, the father’s deletion sites and fragments were consistent with the patient’s. Conclusion The deletion of sY83, sY1064 and sY86 locus in AZFa region of Y chromosome, corresponding to the deletion of Yq11.21(14416038-14622345), is benign, when partial deletions in the AZF region are found, additional extended analysis and genetic testing are required to validate and ensure the accuracy of the data in order to provide a more accurate prediction of testicular phenotype.
作者
刘翛然
韩锐
武爽
赵静
LIU Xiaoran;HAN Rui;WU Shuang;ZHAO Jing(The First Affiliated Hospital of Xinjiang Medical University,Xinjiang 830054,China)
出处
《中国优生与遗传杂志》
2022年第2期290-293,共4页
Chinese Journal of Birth Health & Heredity
基金
新疆维吾尔自治区自然科学基金面上项目(2021D01C297)。
