细胞与分子遗传学技术联合应用诊断性染色体复杂结构异常病例的研究

Application of cytogenetic and molecular genetic techniques in diagnosing sexual chromosome complex structural abnormalities

目的探讨多种细胞与分子遗传学技术在诊断性染色体复杂结构异常病例中的临床应用价值。方法综合应用染色体G显带、染色体微阵列分析技术(chromosomal microarray analysis,CMA)、聚合酶链式反应(polymerase chain reaction,PCR)及荧光原位杂交(fluorescence in situ hybridization,FISH)技术,诊断11例性染色体复杂结构异常患者的染色体畸变来源及结构特征。结果 G显带结合CMA、FISH检测确定了11例患者的性染色体复杂结构来源,8例社会性别为女性的患者中,4例患者的衍生性染色体的异常片段来源于X染色体,4例患者的衍生性染色体异常结构涉及X染色体和Y染色体重组;3例社会性别为男性的患者中,均存在Y染色体的部分缺失。11例患者中有3例性发育异常男性患者和1例身材矮小的女性患者存在SRY基因扩增产物。结论联合应用多种细胞与分子遗传学技术可为性染色体复杂结构异常患者的明确诊断、发病机制研究及后期治疗提供重要的遗传学依据。

Objective： To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of sexual chromosome complex structural abnormalities. Method： Using chromosome G-banding, chromosomal microarray analysis （CMA） , polymerase chain reaction （PCR） and fluorescence in situ hybridization （FISH） to detect 11 cases of sexual chromosome complex structural abnormalities and to determine the origins and structural features of their chromosome abnormalities. Result： Combined with CMA and FISH, G-binding has identified the origins of these 11 patients＇ sex chromosome structural complexities. In 8 patients with social gender as female, 4 had derivative chromosomes of which the abnormal segments were translocated from the X chromosome, while the other 4 had derivative chromosomes of which the abnormal structures were involved in X/Y chromosomal recombination. In 3 patients with social gender as male, Y chromosome partial deletion were commonly found. In all the 11 patients, 3 sexually dysplastic males and 1 short stature female were found to have SRY amplified production. Conclusion： The application of multiple cytogenetic and molecular genetic techniques can provide important genetic basis for the diagnoses, nosogenesis and therapy of sexual chromosome structural abnormal patients.