Department of Endocrinology, The Second Affiliated Hospital of Wenzhou Medical College, Wenzhou, People's Republic of China.
Fertil Steril. 2011 Mar 1;95(3):1122.e3-6. doi: 10.1016/j.fertnstert.2010.09.035. Epub 2010 Oct 14.
To show mutational analysis for 11β-hydroxylase deficiency (11β-OHD).
Case report.
A laboratory of endocrinology at a university hospital.
PATIENT(S): One Chinese woman with 11β-OHD referred to our clinic was observed in our study.
INTERVENTION(S): Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP11B1 gene were assessed by polymerase chain reaction and then direct sequencing analysis.
MAIN OUTCOME MEASURE(S): Molecular characterization of the CYP11B1 gene.
RESULT(S): A novel missense mutation (p.R454C) in the CYP11B1 gene was identified in our patient.
CONCLUSION(S): Our study identified one novel mutation in the CYP11B1 gene. The expanded mutation database should benefit patients in the diagnosis and treatment of 11β-OHD.
展示 11β-羟化酶缺乏症（11β-OHD）的突变分析。
病例报告。
一家大学医院的内分泌学实验室。
我们的研究观察了一位被转介到我们诊所的中国女性 11β-OHD 患者。
从外周血白细胞中提取基因组 DNA，并通过聚合酶链反应和直接测序分析评估 CYP11B1 基因的编码序列异常。
CYP11B1 基因的分子特征。
在我们的患者中发现了 CYP11B1 基因的一个新错义突变（p.R454C）。
我们的研究鉴定了 CYP11B1 基因的一个新突变。扩展的突变数据库将有助于 11β-OHD 的诊断和治疗。
