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Bao, Xin-hua; Ping, Li-li; Wang, Ai-hua; Pan, Hong; Wu, Ye; Xiong, Hui; Zhang, Yue-hua; Shi, Chun-yan; Qin, Jiong; Wu, Xiru
Zhonghua yi xue yi chuan xue za zhi 24, Številka: 1Journal Article
To make prenatal dignosis of X-linked adrenoleukodystrophy (ALD) for the prevention of the disease. Eighteen amniocenteses were performed on 17 suspected carriers of X-ALD during 18-30 gestation weeks. The very long chain fatty acids (VLCFAs) levels of cultured amniocytes were tested by gas chromatography-mass spectrometry (GC/MS). The plasma VLCFAs levels were measured in 8 of the 18 prenatal diagnosed children when they were born or after abortion. ABCD1 gene mutation analysis was carried out in 8 cases by PCR and sequencing. ALDP of amniocytes was tested by Western blotting in 2 cases from a family, one female, another male, and the VLCFAs of cultured amniocytes were increased in both of them. Among the 18 fetuses, 10 were males and 8 were females. The VLCFAs levels of the cultured amniocytes were increased in 3 males and 4 females. The postnatal plasma VLCFAs were normal in 5 cases with normal VLCFAs levels of amniocytes, and increased in 3 cases with high VLCFAs levels of amniocytes. ABCD1 gene mutations
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in: SICRIS
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