应用荧光原位杂交技术检测性染色体异常

Diagnosis of sex chromosome abnormality by fluorescence in situ hybridization

目的探讨荧光原位杂交（ＦＩＳＨ）技术在性染色体异常诊断中的价值。方法应用Ｘ、Ｙ染色体着丝粒探针，对１９例女性性腺发育不全及５例男性不育患者的外周血染色体或间期细胞进行杂交。结果发现的异常核型有：４６，Ｘ，ｒ（Ｘ）、４５，Ｘ／４６，Ｘ，ｒ（Ｘ）、４５，Ｘ／４６，Ｘ，ｄｉｃｉ（Ｙｑ）、４５，Ｘ／４６，ＸＹ、４５，Ｘ／４７，ＸＸＸ、４５，Ｘ／４６，ＸＸ／４７，ＸＸＸ、４５，Ｘ及４７，ＸＸＹ等类型。结论应用ＦＩＳＨ技术可辅助及确定在传统细胞遗传学中无法判别的染色体异常，特别是性染色体异常、未明的小标记染色体（ｍａｒ）、环形染色体。

Objective To evaluate the diagnostic value of fluorescence in situ hybridization (FISH) in sex chromosome abnormality. Method α satellits DNA probes of X, Y chromosomes were used to FISH with blood samples from 19 patients with primary ameniaor of gonad dysplasia. Five infertile men who were detected abnormal by G banding analysis during metaphase and interphase. Samples from healthy men and women were used as positive controls and reactions with hybridization fluid without probes as negative controls. Results The karyotypes. 45, X; 45, X/46, XX/47, XXX; 45, X/46, XY; 47, XXY; 45, X/46, XXX were detected by FISH. Others were not detected by G banding such as 45, X/46, X,r? 46, X,r? but were found to be 45, X/46, X,r(X)、46, X, r(X), by FISH technique, confirming to be X ring chromsone. A female patient whose karyotype was 45, X/46, X, mar. by G banding. But G banding technique could not analyze the property of the marker and FISH revealed the marker was dici(yq), that is dicentric chromosome Y with two long arms of equal length. The real karyotype was 45, X/46, X, dici(yq) mosaicism. It belonged to Y chromosome abnormal and gonadal dysplasia syndrome. Conclusion FISH can help to detect those chromosome abnormalities which can not be confirmed by traditional cytogenetics. It is of value in studying the complex chromosome mutation such as sex chromosome abnormality, unknown little marker, ring chromosome, mosaiciasm and translocation.