Kennan A M, Mansergh F C, Fingert J H, Clark T, Ayuso C, Kenna P F, Humphries P, Farrar G J
Department of Genetics, Trinity College, Dublin, Ireland.
J Med Genet. 1998 Nov;35(11):957-60. doi: 10.1136/jmg.35.11.957.
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 1q. 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.
青光眼指的是一组临床和遗传异质性疾病，这些疾病会导致视神经病变和视野的进行性丧失。青少年型原发性开角型青光眼（JOAG）的一个基因最近已被定位到1q21 - 31。已发现小梁网诱导糖皮质激素反应基因（TIGR，也称为肌纤蛋白或GLC1A位点）中的突变会导致青少年型和迟发型原发性开角型青光眼。家族TCD - POAG1是一个西班牙家族，以常染色体显性方式分离JOAG。发现这个家族与先前在1号染色体1q上确定的GLC1A位点连锁。对TIGR/肌纤蛋白基因进行直接测序显示，密码子380处有一个杂合的A到C的转换，导致天冬氨酸被丙氨酸替代（Asp380Ala）。这种替代产生了一个StyI限制性位点，它与JOAG表型分离，并允许对家族所有成员进行快速筛查。60名对照中不存在这个限制性位点。
