小说preproparathyroid激素信号肽的基因突变与常染色体隐性遗传的孤立hypoparathyroidism有关。
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Sunthornthepvarakul T, Churesigaew年代,Ngowngarmratana年代
小说preproparathyroid激素信号肽的基因突变与常染色体隐性遗传的孤立hypoparathyroidism有关。
中国性金属底座。1999年10月,84 (10):3792 - 6。
- PubMed ID
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10523031 (在PubMed]
- 文摘
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我们报告一个小说prepro-PTH的信号肽基因的突变与常染色体隐性遗传的孤立hypoparathyroidism有关。proposita提供新生儿hypocalcemic发作。血清钙1.5更易/ L(正常,2.0 - -2.5);磷酸是3.6更易/ L(正常,0.9 - -1.5)。她出生血缘的父母。几年后,妹妹和她的侄女了新生儿hypocalcemic发作。在严重低钙血症完整的甲状旁腺素水平是无法觉察的。基因组DNA的proposita prepro-PTH基因的外显子测序。替代的胸腺嘧啶胞嘧啶被发现在第一个核苷酸位置23日25-amino酸信号肽。这导致替代正常的Ser (TCG)专业(20)。 Genotyping of family members was carried out by identification of a new MspI site created by the mutation. Only affected family members were homozygous for the mutant allele, whereas the parents were heterozygous, supporting autosomal recessive inheritance. As this mutation is at the -3 position in the signal peptide of the prepro-PTH gene, we hypothesized that the prepro-PTH mutant might not be cleaved by signal peptidase at the normal position, and it might be degraded in rough endoplasmic reticulum.