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Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.

作者信息

Pollack M S, Maurer D, Levine L S, New M I, Pang S, Duchon M, Owens R P, Merkatz I R, Nitowsky B M, Sachs G, Dupont B

出版信息

Lancet. 1979 May 26;1(8126):1107-8. doi: 10.1016/s0140-6736(79)91789-6.

DOI:10.1016/s0140-6736(79)91789-6
PMID:86832
Abstract

Congenital adrenal hyperplasia (C.A.H.) due to 21-hydroxylase deficiency is an HLA-linked recessive disorder. HLA-A and B antigens are expressed on amniotic cells. Prenatal diagnosis of C.A.H. by HLA typing of families and amniotic cells was attempted in two at-risk families. In one family HLA typing indicated that the fetus would have C.A.H., and this prediction was confirmed after birth. In the second family, HLA typing indicated that the fetus would be an unaffected, phenotypically normal carrier of the disease gene, and this prediction was also confirmed after birth.

摘要

相似文献

1
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
Lancet. 1979 May 26;1(8126):1107-8. doi: 10.1016/s0140-6736(79)91789-6.
2
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Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing.通过HLA分型对先天性肾上腺皮质增生症（21-羟化酶缺乏型）进行产前诊断。
Prenat Diagn. 1981 Jan;1(1):25-33. doi: 10.1002/pd.1970010107.
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8
Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.羊水中17-α羟孕酮及HLA分型用于21-α羟化酶缺乏症（先天性肾上腺皮质增生症）的产前诊断
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引用本文的文献

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Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.先天性肾上腺皮质增生症-病理生理学、诊断和治疗的最新见解。
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2
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
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An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.
类固醇21-羟化酶缺乏症的分子诊断概述。
J Mol Diagn. 2001 May;3(2):49-54. doi: 10.1016/S1525-1578(10)60651-4.
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High frequency of nonclassical steroid 21-hydroxylase deficiency.非经典型类固醇21-羟化酶缺乏症的高发病率。
Am J Hum Genet. 1985 Jul;37(4):650-67.
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
Congenital adrenal hyperplasia associated with a balanced 13--18 translocation.与13号和18号染色体平衡易位相关的先天性肾上腺皮质增生症。
Eur J Pediatr. 1980 May;133(3):283-5. doi: 10.1007/BF00496091.
7
Intersex problems in the neonate.新生儿的两性畸形问题。
Indian J Pediatr. 1982 Jul-Aug;49(399):555-75. doi: 10.1007/BF02834565.
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Everything the pediatrician ever wanted to know about HLA but was afraid to ask.儿科医生一直想了解但又不敢问的关于人类白细胞抗原的一切。
Eur J Pediatr. 1980 Mar;133(2):93-100. doi: 10.1007/BF00441576.
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Location of the gene for 21-hydroxylase deficiency.21-羟化酶缺乏症基因的定位
J Med Genet. 1980 Dec;17(6):447-52. doi: 10.1136/jmg.17.6.447.
10
HLA-A, B, C, DR alleles in congenital adrenal hyperplasia.
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