【摘要】 目的　为指导遗传咨询,鉴别Turner 综合征患者微小标记染色体起源。方法　选择SRY 基因编码区1 对特异寡核苷酸引物、X 和Y 染色体特异探针,采用PCR 及荧光原位杂交方法,对8 例具有Turner 综合征体征的患者进行标记染色体分析。结果　5 例患者标记染色体起源于X染色体;3 例起源于Y 染色体,其中2 例SRY 基因序列扩增,可见男性特异扩增带,另1 例无男性特异扩增带。结论　FISH 与PCR 技术结合可准确鉴别标记染色体,对选择治疗方案及了解核型与表型关系有指导意义。更多还原

【Abstract】 ObjectiveTo direct genetic counseling and identify the origin of small marker chromosome in patients with Turner syndrome stigmata.Methods The specific primer on the sex determining region on Y (SRY) and biotin labeled X and Y chromosome DNA probes were utilized in the analysis of sex chromosome derived markers.The PCR product from the amplification was detected on agarose gel,and fluorescence in situ hybridization(FISH) was conducted to metaphase chromosome.Results In 8 patients who had a small marker chromosome, five markers were derived from the X chromosome and three from the Y chromosome.Two patients with a Y derived marker were determined by Y chromosome probe as well as by SRY sequences amplification.One patient with a Y derived marker was only demonstrated by FISH.Conclusion The findings of this study demonstrate successfully the value and necessity of FISH utilizing DNA probes combined with specific amplification on SRY gene in the identification of sex chromosome marker.Such identification is important not only for clinical care,but also for understanding phenotype karyotype correlations.更多还原