A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma
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DOI：
10.1136/jmg.35.11.957
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发表时间：
1998-11-01
影响因子：
4
通讯作者：
Farrar, GJ
中科院分区：
文献类型：
--
作者：
Kennan, AM;Mansergh, FC;Farrar, GJ
青光眼是一组临床和遗传上不同的疾病，导致视神经病变和进行性视野丧失。少年型原发性开角型青光眼(JOAG)的致病基因最近被定位于1q21-31。小梁网络诱导的糖皮质激素反应基因(TIGR，也称为myoclin或GLC1a基因)的突变已被发现可导致幼年型和晚发型原发性开角型青光眼。TCD-POAG1家族是一个西班牙家系，以常染色体显性方式分离JOAG。该家系被发现与染色体IQ上先前发现的GLC1a基因座连锁。对TIGR/myoclin基因的直接测序显示，380密码子发生A到C杂合转换，导致丙氨酸取代天冬氨酸(Asp380Ala)。这种替换产生了一个StyI限制酶切点，它与JOAG表型分离，并允许对该家族的所有成员进行快速筛选。在60名对照中，该限制酶切点不存在。
Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy and progressive loss of visual fields. A gene for juvenile onset primary open angle glaucoma (JOAG) has recently been mapped to 1q21-31. Mutations in the trabecular meshwork induced glucocorticoid response gene (TIGR, also known as myocilin or the GLC1A locus) have been found to cause both juvenile and later onset primary open angle glaucoma. Family TCD-POAG1 is a Spanish kindred, which segregates JOAG in an autosomal dominant fashion. This family was found to be linked to the previously identified GLC1A locus on chromosome Iq. Direct sequencing of the TIGR/myocilin gene showed a heterozygous A to C transition in codon 380, resulting in the substitution of alanine for aspartic acid (Asp380Ala). This substitution created a StyI restriction site, which segregated with the JOAG phenotype and permitted rapid screening of all members of the family. This restriction site was not present in 60 controls.