Molecular diagnosis of a pedigree with 17 alpha-hydroxylase/17，20-lyase deficiency

doi:10.7504/nk2014110503

Abstract

Abstract:

Abstract：Objective To make molecular diagnosis for a family with 17 alpha-hydroxylase/17，20-lyase deficiency (17OHD).Methods Genomic DNA was isolated from the blood of the patient and the family members (younger sister，mother and aunt).In order to analyze the genetic mutation，eight pairs of primers were designed to amplify the CYP17A1 gene followed by direct sequencing of the polymerase chain reaction (PCR) products.Results Clinical manifestations of the proband agreed with 17OHD.The sequencing results showed that 9 bases (TCGACTCTT) were missing in the exon 8 of the CYP17A1 gene from the proband，leading to a homozygous mutation of D487-F489 deletion.Her mother and aunt were both heterozygous carriers of CYP17A1 gene mutation，while no mutation was found in her younger sister.Conclusion The molecular diagnosis method is established to analyze the mutation by direct amplification and sequencing of CYP17A1 gene.This method can diagnose 17OHD accurately，therefore laying the foundation for genetic counseling and prenatal diagnosis.

Key words: 17 alpha-hydroxylase/17, 20-lyase deficiency；CYP17A1 gene；gene mutation

摘要：

目的对17α羟化酶17，20碳链裂解酶缺陷症(17OHD)1个家系4人进行分子诊断。方法对2013年南京军区福州总医院收治的17OHD患者及其母亲、小姨和妹妹全血中抽提基因组DNA，设计8对引物，采用PCR扩增产物直接测序方法进行基因突变分析。结果先证者的临床表现符合17OHD，其家族中未有其他病例。先证者序列分析表明，其CYP17A1基因第8外显子存在9个碱基(GACTCTTTC)缺失，导致第487~489位氨基酸缺失，使P450c17酶完全失活，从而导致17OHD。其母亲和小姨为该位点杂合缺失，妹妹未检测到同一缺失。结论建立了基于CYP17A1基因突变分析的分子诊断方法，可以对17OHD进行准确的分子诊断，并可为遗传咨询及其产前诊断奠定基础。

关键词: 17&alpha, 羟化酶17, 20碳链裂解酶缺陷症, CYP17A1基因, 基因突变

CLC Number:

R586.2

YAN Ai-zhen，ZHENG De-zhu,ZENG Jian,WANG Zhi-hong,LAN Feng-hua.. Molecular diagnosis of a pedigree with 17 alpha-hydroxylase/17，20-lyase deficiency[J]. Acta Metallurgica Sinica, DOI: 10.7504/nk2014110503.

严爱贞，郑德柱，曾健，王志红，兰风华. 17α羟化酶17，20碳链裂解酶缺陷症家系分子诊断研究[J]. 中国实用内科杂志, DOI: 10.7504/nk2014110503.

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