WuDunn D, Parrish R K, Inana G
Bascom Palmer Eye Institute, Miami, FL, USA.
Ophthalmic Genet. 1996 Sep;17(3):87-94. doi: 10.3109/13816819609057110.
A gene for autosomal dominant, juvenile-onset, primary open angle glaucoma (GLCIA) has been previously mapped to 1q21-31 in several Caucasian pedigrees. We studied two Hispanic families with this disease to determine if their disease genes also map to this region. Individuals were considered as being affected if they had 1OP > 30 mmHg (without treatment) and glaucomatous optic nerve damage or visual field defects. Persons older than 40 years with intraocular pressures < or = 21 mmHg and no evidence of optic nerve damage or visual field loss were scored as unaffected. Individuals not falling into these two categories were considered unknown. Genomic DNA was extracted from blood samples and subjected to PCR-based microsatellite marker analysis. Computer-based linkage analysis was used to determine if the disease gene mapped to chromosome 1q2I-31. In the family from the Canary Islands, the disease gene was linked to the chromosome 1q2I-31 region previously identified by other researchers. Markers D1S212 and D1S218 produced maximum lod scores of 3.38 and 2.99, respectively. In the family from the Balearic Islands, the disease gene was excluded from this region by genetic linkage analysis. Haplotype analysis also excluded the disease gene from chromosome 1q21-31. Our Hispanic families showed genetic heterogeneity with respect to autosomal dominant, juvenile-onset, primary open angle glaucoma.
一种与常染色体显性、青少年型原发性开角型青光眼（GLCIA）相关的基因，此前已在几个白种人家系中被定位到1q21 - 31区域。我们研究了两个患有这种疾病的西班牙裔家族，以确定他们的致病基因是否也定位于该区域。如果个体眼压>30 mmHg（未经治疗）且伴有青光眼性视神经损伤或视野缺损，则被视为患病。年龄大于40岁、眼压≤21 mmHg且无视神经损伤或视野缺损证据的个体被判定为未患病。不属于这两类的个体被视为情况不明。从血液样本中提取基因组DNA，并进行基于PCR的微卫星标记分析。采用基于计算机的连锁分析来确定致病基因是否定位于染色体1q21 - 31。在来自加那利群岛的家族中，致病基因与先前其他研究人员所确定的染色体1q21 - 31区域连锁。标记D1S212和D1S218产生的最大对数优势分数分别为3.38和2.99。在来自巴利阿里群岛的家族中，通过遗传连锁分析将致病基因排除在该区域之外。单倍型分析也将致病基因排除在染色体1q21 - 31之外。我们的西班牙裔家族在常染色体显性、青少年型原发性开角型青光眼方面表现出遗传异质性。
