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一个三姐妹同患P450c 17 缺陷家系的分子遗传学研究 |
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乔洁 胡仁明 彭永德 彭怡文 胡南英 郝建平 许曼音 陈家伦
摘 要：目的 研究1个三姐妹同患P450c 17α缺陷家系的分子遗传学机制。方法 采用聚合酶链反应-单链构象多态性(PCR-SSCP)、限制性内切酶酶切及自动测序等方法检测患者家系中CYP17基因的突变情况。结果 3例患者CYP 17基因中一等位基因的第6号外显子有杂合点突变His373→Leu，用等位基因特异性扩增的方法证明此点突变来自父方；另一等位基因第8号外显子另有9个碱基缺失的突变，使位于羧基端487-489位的Asp-Ser-Phe缺失，并用限制性内切酶酶切的方法证实患者的母亲和一个胞弟是该缺失突变的携带者。结论 1个三姐妹同时患病的中国人P450c 17α缺陷的家系是由于CYP 17基因的复合杂合突变所致。
关键词：醛裂解酶类； 细胞色素P-450； 杂合子； 突变； 甾类17α-单加氧酶
Molecular genetic study on a pedigree with three sisters suffering from P450c 17α deficiency
QIAO Jie HU Renming PENG Yongde et al
（Department of Endocrinology,Ruijin Hospital,Shanghai Institute of Endocrinology,Shanghai Second Medical University,Shanghai 200025）
Abstract：Objective To study the molecular genetic mechanism of a pedigree with three sisters suffering from P450c 17α deficiency. Methods Mutation of CYP17 genes of the family members was investigated by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), restrict endonuclease digestion and autosequencing. Results A heterozygous missense mutation of His373→Leu of sixth exon was detected in one allele of CYP17 gene of three patients, which was proved to be inherited from agnate using allele specific amplification (ASA). Another allele contained a nine-base deletion in exon 8, eliminating codons 487-489 (Asp-Ser-Phe) near the carboxy-terminus of P450c 17α. The mother and brother of the sisters were demonstrated to be the carriers of deletion mutation through restrict endonucleases digestion. Conclusion A Chinese pedigree, with three sisters suffering from a deficiency of P450c 17α, is due to a new complex heterozygous mutation of CYP17 gene.
Key words：Aldehyde-lyases; Cytochrome P-450; Heterozygote; Mutation; Steroid 17 alpha-monooxygenase▲
P450c 17α缺陷是先天性肾上腺增生症(congenital adrenal hyperplasia, CAH)中的一种少见类型，遵循常染色体隐性遗传规律。以皮质醇和性激素合成障碍为特征，P450c 17α缺[1] [2] 下一页
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