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根据位于人类Y染色体短臂的性别决定区SRY基因的序列,人工合成一对引物。以正常男、女性白细胞DNA为对照,以PCR技术体外扩增了16例绒毛DNA样本,结果有9例出现Y特异性扩增带,余为阴性,说明这9例为男性胎儿,另7例为女性胎儿。用扩增性别决定基因的方法作产前性别测定,在临床上可用于X连锁遗传病的辅助诊断和性异常的研究。
A pair of primers was synthesized based on the sequence of the SRY gene in the sex determining region of the short arm of the human Y chromosome. With normal male and female leucocyte DNA as a control, PCR amplification of 16 cases of villi DNA samples in vitro, the results of 9 cases of Y-specific amplification band, the remaining negative, indicating that these 9 cases of male fetus, the other 7 cases Female fetus. The method of amplifying sex-determining genes for prenatal sex determination can be used clinically for the auxiliary diagnosis and abnormality of X-linked genetic diseases.