Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency |
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作者姓名: | 刘炳丽 乔洁 陈霞 梁军 左春林 顾燕云 韩兵 龚静 汝颖 陆颖理 吴万龄 陈名道 宋怀东 |
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作者单位: | 分子医学中心,上海交通大学医学院附属瑞金医院内分泌代谢病研究所,200025;上海交通大学附属第九人民医院内分泌科,200025;南京医科大学第一附属医院老年科;江苏省徐州中心医院内分泌科; |
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摘 要: | Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.
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关 键 词: | 17α-羟化酶/17,20-碳链酶缺陷症 CYP17A1基因,基因突变 杂合子携带频率 17α-hydroxylase/17,20-lyase deficiency |
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