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Vol.42 No.2 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/1995

Title: 21-ハイドロキシラーゼ欠損症(塩喪失型)1家系における出生前診断の試み
Other Titles: PRENATAL DIAGNOSIS IN A FAMILY WITH 21-HYDROXYLASE DEFICIENCY (SALT-WASTING TYPE)
Authors: 三上, 貞昭
森井, 直之
根津, 智子
山下, 千賀子
新家, 直子
寺本, 好弘
西村, 拓也
中, 宏之
Keywords: 21-hydroxylase deficiency
prenatal diagnosis
DNA diagnosis
17-OHP
HLA haplotype
Issue Date: 30-Apr-1991
Publisher: 奈良医学会
Citation: 奈良医学雑誌 Vol.42 No.2 p.160-164
Abstract: A prenatal diagnosis was performed in a family with salt-wasting type of 21-hydroxylase deficiency (21-OHD). A trial of DNA diagnosis in the family, including a patient, did not reveal informative data when DNAs were restricted with TaqⅠ and hybridized with pC21/3c probe. The level of 17-OHP in the amnion was within a normal range. A girl was born without clinical symptoms. One HLA haplotype which was detected in the patient was inherited from the father. With a view to increasing the number of Japanese families which are proceeded to prenatal DNA diagnosis, it is expected that a beneficial combination with a small number of intragenic RFLPs and/or extragenic RFLPs close to the gene will be established and widely used. Hereafter, prenatal diagnosis in early pregnany will be important for families with 21-OHD.
URI: http://hdl.handle.net/10564/1995
ISSN: 04695550
13450069
Appears in Collections:Vol.42 No.2

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