SEX DETERMINATION OF PREIMPLANTATION EMBRYOS BY HUMAN TESTIS-DETERMINING-GENE AMPLIFICATION
SEX DETERMINATION OF PREIMPLANTATION EMBRYOS BY HUMAN TESTIS-DETERMINING-GENE AMPLIFICATION
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DOI：
10.1016/s0140-6736(94)90815-x
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发表时间：
1994-01-08
期刊：
影响因子：
168.9
通讯作者：
MATTHEWS, CD
中科院分区：
文献类型：
--
作者：
CUI, KH;WARNES, GM;MATTHEWS, CD
当存在遗传性疾病的风险时，植入前诊断为夫妇提供了避免生出患有该疾病的孩子的机会。性别测定可用于排除与性别有关的疾病的可能性。诊断的准确性很重要。我们测试了基于睾丸决定基因 (SRY) 序列识别的性别决定的可靠性。使用 SRY 和对照 (ZP3) 基因引物，通过聚合酶链式反应 (PCR) 扩增了 120 名男性和女性血液以及 38 个单个淋巴细胞的 DNA。所有结果均证实出生性别正确（100%）。然后，该测试用于确定从 21 个（4-8 细胞）人类多精胚胎中活检的 21 个单胚胎细胞的性别。活检时发现 2 个胚胎细胞已退化，结果呈阴性。其他 19 个单胚胎细胞显示 100% PCR 扩增。其中11个（58%）胚胎被判定为“雄性”，8个（42%）个胚胎被判定为“雌性”。所选的SRY和ZP3基因引物具有高度特异性，能够给出准确的性别判定结果，为男性常规植入前和一般产前性别判定提供了一种新的可靠方法。
When there is a risk of inherited disease, preimplantation diagnosis gives couples an opportunity to avoid having a child with the disease. Sex determination can be used to exclude the likelihood of a sex-linked disorder. Accuracy of the diagnosis is important. We have tested the reliability of sex determination based on the recognition of a testis-determining gene (SRY) sequence.DNA from the blood of 120 men and women and from 38 single lymphocytes was amplified by polymerase chain reaction (PCR) with the SRY and control (ZP3) gene primers. All results confirmed the correct sex of origin (100%). The test was then used to determine the sex of 21 single embryo cells biopsied from 21 (4-8 cell) human polyspermic embryos. 2 embryo cells recognised at biopsy to have degenerated produced negative results. The other 19 single embryo cells showed 100% PCR amplification. 11 (58%) of the embryos were judged to be ''male'' and 8 (42%) ''female''.The SRY and ZP3 gene primers selected are highly specific and give accurate results in sex determination and their use provides a new reliable method for routine preimplantation and general prenatal sex determination in man.