Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.
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DOI：
10.1210/jcem-70-3-752
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发表时间：
1990-03
期刊：
影响因子：
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通讯作者：
D. Repaske;JOHN A. Phillips;LORNE T. Kirby;W. Tze;A. D'Ercole;James Battey
中科院分区：
文献类型：
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作者：
D. Repaske;JOHN A. Phillips;LORNE T. Kirby;W. Tze;A. D'Ercole;James Battey
研究了常染色体显性遗传性尿囊性神经性垂体性糖尿病（AD-NDI） 3个家族精氨酸加压素-神经性垂体- ii （AVP-NPII）基因的表达状况。来自受影响个体的含有AVP-NPII序列的基因组DNA限制性内切片段在大小上与正常对照无明显差异。因此，这些ADNDI患者没有AVP-NPII等位基因明显的大缺失、插入或重排。用20号染色体相邻基因催产素-神经physin- i （OT-NPI）探针检测到4个限制性内切片段长度多态性。这三个家族的限制性片段长度多态性单倍型与ADNDI表型之间的连锁研究强烈表明共分离。这表明ADNDI的遗传位点位于AVP-NPII位点内或附近，并提示有缺陷的AVP-NPII等位基因可能是ADNDI的基础。
The status of the arginine vasopressin-neurophysin-II (AVP-NPII) gene was studied in three families with autosomal dominant neurohypophyseal diabetes insipidus (AD-NDI). Restriction fragments of genomic DNA containing AVP-NPII sequences from affected individuals were not detectably different in size from those of normal controls. Thus, these individuals with ADNDI do not have apparent large deletions, insertions, or rearrangements of an AVP-NPII allele. Four restriction fragment length polymorphisms were detected with a probe for the adjacent gene on chromosome 20, oxytocin-neurophysin-I (OT-NPI). Linkage studies in these three families between the restriction fragment length polymorphism haplotypes and ADNDI phenotype strongly suggest cosegregation. This indicates that the genetic locus for ADNDI maps within or near the AVP-NPII locus and suggests that a defective AVP-NPII allele may be the basis of ADNDI.