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应用 AMELY 基因检测可疑 X 连锁隐性遗传病的胎儿性别

Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene.

机构信息

Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran.

Department of Microbiology, Islamic Azad University, Shahr-e- Qods Branch, Tehran, Iran.

出版信息

Iran J Basic Med Sci. 2014 Feb;17(2):134-7.

Abstract

OBJECTIVE(S): To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy.

MATERIALS AND METHODS

After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy.

RESULTS

Early fetal gender of 100 Chorionic Villi samples were assessed by PCR. After increasing sensitivity of the assay, the sexes in 13 fetuses that were in different cellular stages were detected. Morover, sexes were detected in two unfertilized and one fertilized ovum but without any division.

CONCLUSION

Sex detection of fetus before delivery in the first trimester of pregnancy, will prevent babies with abnormalities being born. It can also be used in detection of recessive sex related diseases in In Vitro Fertilization cases for sex detection and to transfer female fetus to the mother. Our optimized molecular detection system was designed on the basis of amelogenin gene, which can determine the sex in blood, chorionic villi, and single cell in vitro fertilization with high sensitivity and specificity.

摘要

目的

在妊娠早期,对疑似伴性隐性遗传病的病例进行胎儿性别鉴定。

材料与方法

收集 100 个绒毛样本后,提取 DNA 并确定婴儿性别。同时,在提高灵敏度后,该系统能够检测到通过活检获得的每个细胞的性别。

结果

采用 PCR 对 100 例绒毛样本的早期胎儿性别进行评估。在提高检测灵敏度后,检测到 13 个处于不同细胞阶段的胎儿的性别。此外,还检测到两个未受精卵和一个受精卵,但它们均没有分裂。

结论

在妊娠早期进行产前胎儿性别鉴定,可以防止异常婴儿的出生。它还可以用于体外受精病例中隐性性相关疾病的检测,以进行性别检测并将女性胎儿转移给母亲。我们的优化分子检测系统是基于 amelogenin 基因设计的,可以在高灵敏度和特异性下,从血液、绒毛和体外受精的单细胞中确定性别。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18d4/3976752/18d4bedcd65f/ijbms-17-134-g001.jpg

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