21-羟化酶基因常见突变的不表达：对产前诊断和携带者检测的意义。
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
作者信息
Rumsby G, Massoud A F, Avey C, Brook C G
机构信息
Department of Chemical Pathology, UCL Hospitals, London, UK.
出版信息
J Med Genet. 1996 Sep;33(9):798-9. doi: 10.1136/jmg.33.9.798.
Abstract
Mutation analysis in the family of a child with 21-hydroxylase deficiency showed that the father and affected child were homozygous for a mutation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptomatic, showed no biochemical evidence of disease. These results create problems for the management of future pregnancies in such families and for the interpretation of the risk associated with carrier status for this mutation.
摘要
对一名患有21-羟化酶缺乏症儿童的家族进行的突变分析显示，父亲和患病儿童对于一种突变（A/C655G）是纯合子，该突变被认为会激活21-羟化酶基因内含子2中的一个隐蔽剪接位点。临床无症状的父亲未显示出疾病的生化证据。这些结果给此类家庭未来妊娠的管理以及对此突变携带者状态相关风险的解读带来了问题。
相似文献
1
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.21-羟化酶基因常见突变的不表达：对产前诊断和携带者检测的意义。
J Med Genet. 1996 Sep;33(9):798-9. doi: 10.1136/jmg.33.9.798.
2
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.14 名疑似先天性肾上腺皮质增生症埃及儿童的 CYP21A2 基因谱：诊断挑战。
Ann N Y Acad Sci. 2018 Mar;1415(1):11-20. doi: 10.1111/nyas.13540. Epub 2017 Dec 21.
3
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.类固醇21-羟化酶缺乏所致先天性肾上腺皮质增生症的产前诊断：来自印度一家三级医疗中心的经验
Indian J Med Res. 2017 Feb;145(2):194-202. doi: 10.4103/ijmr.IJMR_329_16.
4
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.对克罗地亚93例因21-羟化酶缺乏导致经典型先天性肾上腺皮质增生症的患者及193名家庭成员进行分子遗传学分析。
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):51-56. doi: 10.1016/j.jsbmb.2016.03.035. Epub 2016 Mar 31.
5
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.通过等位基因特异性扩增对类固醇21-羟化酶缺乏症进行产前诊断。
Fetal Diagn Ther. 2001 Jul-Aug;16(4):237-40. doi: 10.1159/000053918.
6
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.中国21-羟化酶缺乏所致先天性肾上腺皮质增生症的携带者分析及产前诊断
J Clin Endocrinol Metab. 2000 Feb;85(2):597-600. doi: 10.1210/jcem.85.2.6367.
7
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.伊朗东北部21-羟化酶缺乏症家庭中CYP21基因的分子分析及产前诊断
Horm Res. 2005;63(3):119-24. doi: 10.1159/000084570. Epub 2005 Mar 17.
8
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].[21-羟化酶缺乏症患者的CYP21基因点突变研究]
Zhonghua Er Ke Za Zhi. 2003 Sep;41(9):670-4.
9
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.匈牙利先天性肾上腺皮质增生症患者21-羟化酶基因突变的筛查
J Clin Endocrinol Metab. 1999 Jul;84(7):2369-72. doi: 10.1210/jcem.84.7.5835.
10
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.诊断21-羟化酶缺乏症和先天性肾上腺皮质增生症的分子方法。
Clin Lab Med. 1996 Mar;16(1):125-37.
引用本文的文献
1
Antenatal treatment of a mother bearing a fetus with congenital adrenal hyperplasia.对怀有先天性肾上腺皮质增生症胎儿的母亲进行产前治疗。
Arch Dis Child Fetal Neonatal Ed. 2000 May;82(3):F176-81. doi: 10.1136/fn.82.3.f176.
本文引用的文献
1
Highly informative typing of the human TNF locus using six adjacent polymorphic markers.利用六个相邻的多态性标记对人类肿瘤坏死因子基因座进行高信息量分型。
Genomics. 1993 Apr;16(1):180-6. doi: 10.1006/geno.1993.1156.
2
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.通过直接检测类固醇21-羟化酶基因中的突变进行先天性肾上腺皮质增生症的产前诊断。
Clin Endocrinol (Oxf). 1993 Apr;38(4):421-5. doi: 10.1111/j.1365-2265.1993.tb00524.x.
3
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
Hum Mutat. 1993;2(2):141-4. doi: 10.1002/humu.1380020215.
4
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
J Clin Endocrinol Metab. 1994 May;78(5):1145-52. doi: 10.1210/jcem.78.5.8175971.
5
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.通过等位基因特异性杂交和Southern印迹法对21-羟化酶缺乏所致先天性肾上腺皮质增生症进行产前诊断。
Hum Genet. 1994 Apr;93(4):424-8. doi: 10.1007/BF00201668.
6
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.
J Clin Endocrinol Metab. 1995 May;80(5):1635-40. doi: 10.1210/jcem.80.5.7745011.
7
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.类固醇21-羟化酶缺乏症：基因型可能无法预测表型。
J Clin Endocrinol Metab. 1995 Aug;80(8):2322-9. doi: 10.1210/jcem.80.8.7629224.
8
Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.类固醇21-羟化酶内含子2突变患者亲属的基因型与表型差异。
Endocr Res. 1995 Feb-May;21(1-2):359-64. doi: 10.3109/07435809509030452.
9
Structure of human steroid 21-hydroxylase genes.人类类固醇21-羟化酶基因的结构
Proc Natl Acad Sci U S A. 1986 Jul;83(14):5111-5. doi: 10.1073/pnas.83.14.5111.
10
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.人类染色体中串联排列的两个类固醇21-羟化酶基因的完整核苷酸序列：一个假基因和一个功能基因。
Proc Natl Acad Sci U S A. 1986 May;83(9):2841-5. doi: 10.1073/pnas.83.9.2841.
Zotero 插件