https://scholars.lib.ntu.edu.tw/handle/123456789/194400
Title: | 21-羥缺乏所致之先天性腎上腺增生的分子病變 | Authors: | 蔡文友 | Keywords: | congenital adrenal hyperplasia;21-hydroxylase deficiency | Issue Date: | 1999 | Publisher: | 臺北市:國立臺灣大學醫學院小兒科 | Abstract: | 典型21-羥缺乏所致之先天性腎上 腺增生為孩童常見的內分泌疾病。本研究 共分析來自57 家庭的62 病人,結果顯示 常見的突變依序為I172N(22.8%),介入子2 突變(21.1%),脫失或大基因轉換(14%)及 R356W(8.8%)。於一單純雄性化型患者, 除了發現I172N 突變外,於外介子9 尚發 現一新的突變。我們的結果亦證實基因型 與表型間有很好的相關性。所有具無效的 偶對基因者均為失鹽型患者,具有內介子2 患者中僅有一名為單純雄性化型,而所有 具I172N 患者均為單純雄性化型。 Classic congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common endocrine disorder in children. In the present study, we genotyped 62 patients from 57 unrelated families. Our results showed that the most common mutation was I172N (22.8%), followed by intron 2 splicing mutation (21.1%), deletion or large gene conversion (LGC)(14%) and R356W(8.8%). One novel mutation in exon 9 was detected in a simple virilizer who also carried the I172N mutation. There was good correlation between genotype and phenotype. All patients with both null alleles are salt losers. Patients with intron 2 as the determining alleles are all salt losers except one simple virilizer. All patients carrying I172N are simple virilizer. 二、Introduction Classic CAH due to 21-hydroxylase deficiency is a common disorder in children. Forty-nine mutations of the steroid 21- hydroxylase gene has been reported [1-3]. Although some discrepancies have been reported, the genotype generally correlates with the phenotype [4,5]. The mutation study of CAH patients in Taiwan has been reported [6-8]. However, the phenotypegenotype correlation has not been reported before. In the present study, we analyzed the molecular pathology of 62 classic CAH patients with allele-specific PCR and PCRsingle strand conformation polymorphism (SSCP) in order to provide information for the rapid diagnosis in the suspected neonates and prenatal diagnosis in high-risk families. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/22834 | Other Identifiers: | 882314B002178 | Rights: | 國立臺灣大學醫學院小兒科 |
Appears in Collections: | 醫學系 |
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882314B002178.pdf | 32.07 kB | Adobe PDF | View/Open |
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