Rapid detection of homozygous mutations in congenital recessive ichthyosis
Rapid detection of homozygous mutations in congenital recessive ichthyosis
复制标题
先天性隐性鱼鳞病纯合突变的快速检测
DOI：
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发表时间：
2008
影响因子：
3
通讯作者：
E. Sprecher
中科院分区：
文献类型：
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作者：
J. Lugassy;H. Hennies;M. Indelman;Z. Khamaysi;R. Bergman;E. Sprecher
先天性隐性鱼鳞病（CRI）形成了一组非常异质性的疾病，由至少八个不同基因的突变引起，其中六个基因迄今已被确定。在本研究中，我们确定了两个CRI家庭的伊朗和德鲁兹起源。利用这些群体的高度血缘特征，我们对所有家庭成员进行了跨越主要CRI染色体基因座的微卫星标记分型，并使用纯合性图谱来识别候选基因以供后续突变分析。该策略导致快速鉴定TGM1（c.2058delC）和FLJ39501（p.W521X）中的两种新的纯合CRI引起的突变。目前的数据表明，在近亲家庭CRI的分子分析可以很容易地完成在不到96小时，在相对较低的成本。
Congenital recessive ichthyoses (CRI) form a remarkably heterogeneous group of diseases, resulting from mutations in at least eight distinct genes, six of which have been identified so far. In the present study we ascertained two CRI families of Iranian and Druze origins. Exploiting the high degree of consanguinity characterizing these populations, we typed all family members for microsatellite markers spanning the major CRI chromosomal loci and used homozygosity mapping to identify candidate genes for subsequent mutational analysis. This strategy led to the rapid identification of two novel homozygous CRI-causing mutations in TGM1 (c.2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs.
影响因子：
9.8
作者：
D. Kelsell;E. Norgett;Harriet C Unsworth;M. Teh;T. Cullup;C. Mein;P. Dopping-Hepenstal;B. Dale;G. Tadini;P. Fleckman;K. Stephens;V. Sybert;S. Mallory;B. North;D. Witt;E. Sprecher;A. Taylor;A. Ilchyshyn;C. Kennedy;H. Goodyear;C. Moss;D. Paige;J. Harper;B. Young;I. Leigh;R. Eady;E. O’Toole
通讯作者：
D. Kelsell;E. Norgett;Harriet C Unsworth;M. Teh;T. Cullup;C. Mein;P. Dopping-Hepenstal;B. Dale;G. Tadini;P. Fleckman;K. Stephens;V. Sybert;S. Mallory;B. North;D. Witt;E. Sprecher;A. Taylor;A. Ilchyshyn;C. Kennedy;H. Goodyear;C. Moss;D. Paige;J. Harper;B. Young;I. Leigh;R. Eady;E. O’Toole